ASTE1 — 103 ClinVar variants
All ClinVar germline ASTE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →
8 Likely benign · 95 Uncertain significance
Full ASTE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 97
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 59
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASTE1 p.Ala202Thr Uncertain significance Single submitter
- ASTE1 p.Ala219Val Uncertain significance Single submitter
- ASTE1 p.Ala239Thr Uncertain significance Single submitter
- ASTE1 p.Arg143Trp Uncertain significance Single submitter
- ASTE1 p.Arg240His Uncertain significance Single submitter
- ASTE1 p.Arg255Gln Uncertain significance Single submitter
- ASTE1 p.Arg38His Uncertain significance Single submitter
- ASTE1 p.Arg438Lys Uncertain significance Single submitter
- ASTE1 p.Arg48Gln Uncertain significance Single submitter
- ASTE1 p.Arg529Gln Uncertain significance Single submitter
- ASTE1 p.Arg660Gln Uncertain significance Single submitter
- ASTE1 p.Asn261Ser Uncertain significance Single submitter
- ASTE1 p.Asn275Ser Uncertain significance Single submitter
- ASTE1 p.Asn677Ser Uncertain significance Single submitter
- ASTE1 p.Gln125Arg Uncertain significance Single submitter
- ASTE1 p.Gln179His Uncertain significance Single submitter
- ASTE1 p.Gln300His Uncertain significance Single submitter
- ASTE1 p.Gln582Lys Uncertain significance Single submitter
- ASTE1 p.Glu121Gln Uncertain significance Single submitter
- ASTE1 p.Glu421Lys Uncertain significance Single submitter
- ASTE1 p.Glu477Asp Uncertain significance Single submitter
- ASTE1 p.Glu477Gln Uncertain significance Single submitter
- ASTE1 p.Gly624Asp Uncertain significance Single submitter
- ASTE1 p.Gly624Ser Uncertain significance Single submitter
- ASTE1 p.Gly657Ala Uncertain significance Single submitter
- ASTE1 p.His366Gln Uncertain significance Single submitter
- ASTE1 p.His483Gln Uncertain significance Single submitter
- ASTE1 p.His650Arg Uncertain significance Single submitter
- ASTE1 p.Ile231Met Uncertain significance Single submitter
- ASTE1 p.Ile28Leu Uncertain significance Single submitter
- ASTE1 p.Ile454Leu Uncertain significance Single submitter
- ASTE1 p.Ile596Val Uncertain significance Single submitter
- ASTE1 p.Leu236Phe Uncertain significance Single submitter
- ASTE1 p.Leu346Val Uncertain significance Single submitter
- ASTE1 p.Leu47Ile Uncertain significance Single submitter
- ASTE1 p.Leu489Pro Uncertain significance Single submitter
- ASTE1 p.Leu536Ser Uncertain significance Single submitter
- ASTE1 p.Leu571Arg Uncertain significance Single submitter
- ASTE1 p.Leu584Pro Uncertain significance Single submitter
- ASTE1 p.Leu603Phe Uncertain significance Single submitter
- ASTE1 p.Lys515Arg Uncertain significance Single submitter
- ASTE1 p.Lys601Glu Uncertain significance Single submitter
- ASTE1 p.Lys623Glu Uncertain significance Single submitter
- ASTE1 p.Met183Thr Uncertain significance Single submitter
- ASTE1 p.Phe172Tyr Uncertain significance Single submitter
- ASTE1 p.Pro242Thr Uncertain significance Single submitter
- ASTE1 p.Pro465Arg Uncertain significance Single submitter
- ASTE1 p.Ser111Asn Uncertain significance Single submitter
- ASTE1 p.Ser14Asn Uncertain significance Single submitter
- ASTE1 p.Ser14Thr Uncertain significance Single submitter
- ASTE1 p.Ser339Cys Uncertain significance Single submitter
- ASTE1 p.Ser613Leu Uncertain significance Single submitter
- ASTE1 p.Thr476Asn Uncertain significance Single submitter
- ASTE1 p.Thr648Ala Uncertain significance Single submitter
- ASTE1 p.Thr90Arg Uncertain significance Single submitter
- ASTE1 p.Trp392Cys Uncertain significance Single submitter
- ASTE1 p.Val276Ile Uncertain significance Single submitter
- ASTE1 p.Val347Ile Uncertain significance Single submitter
- ASTE1 p.Val590Ile Uncertain significance Single submitter
Predictors split 38
The independent predictors disagree with each other — read with care.
- ASTE1 p.Ala514Thr Uncertain significance Single submitter
- ASTE1 p.Ala526Val Likely benign Single submitter
- ASTE1 p.Ala69Pro Uncertain significance Single submitter
- ASTE1 p.Arg38Pro Uncertain significance Single submitter
- ASTE1 p.Arg440Trp Uncertain significance Single submitter
- ASTE1 p.Asn268Lys Uncertain significance Single submitter
- ASTE1 p.Asp167Glu Uncertain significance Single submitter
- ASTE1 p.Asp46Tyr Uncertain significance Single submitter
- ASTE1 p.Asp79Asn Uncertain significance Single submitter
- ASTE1 p.Cys115Arg Uncertain significance Single submitter
- ASTE1 p.Cys164Trp Uncertain significance Single submitter
- ASTE1 p.Cys222Arg Uncertain significance Single submitter
- ASTE1 p.Gln370His Uncertain significance Single submitter
- ASTE1 p.Glu11Asp Uncertain significance Single submitter
- ASTE1 p.Gly513Asp Uncertain significance Single submitter
- ASTE1 p.His206Gln Uncertain significance Single submitter
- ASTE1 p.Ile30Thr Uncertain significance Single submitter
- ASTE1 p.Ile619Thr Uncertain significance Single submitter
- ASTE1 p.Ile84Asn Uncertain significance Single submitter
- ASTE1 p.Leu277Arg Uncertain significance Single submitter
- ASTE1 p.Leu280Arg Uncertain significance Single submitter
- ASTE1 p.Leu47Arg Uncertain significance Single submitter
- ASTE1 p.Leu530Pro Likely benign Single submitter
- ASTE1 p.Lys99Met Uncertain significance Single submitter
- ASTE1 p.Met296Thr Uncertain significance Single submitter
- ASTE1 p.Met296Val Uncertain significance Single submitter
- ASTE1 p.Met7Ile Uncertain significance Single submitter
- ASTE1 p.Phe341Leu Uncertain significance Single submitter
- ASTE1 p.Pro74Leu Uncertain significance Single submitter
- ASTE1 p.Ser199Ala Uncertain significance Single submitter
- ASTE1 p.Ser237Gly Uncertain significance Single submitter
- ASTE1 p.Ser469Arg Uncertain significance Single submitter
- ASTE1 p.Thr26Ile Uncertain significance Single submitter
- ASTE1 p.Thr491Pro Uncertain significance Single submitter
- ASTE1 p.Thr91Ser Uncertain significance Single submitter
- ASTE1 p.Tyr315Cys Uncertain significance Single submitter
- ASTE1 p.Val590Ala Uncertain significance Single submitter
- ASTE1 p.Val77Ile Uncertain significance Single submitter
All ASTE1 variants
Likely benign 8
- p.Ala239Val Single submitter
- p.Ala526Val Single submitter ⚠
- p.Arg131Gln Single submitter
- p.Leu530Pro Single submitter ⚠
- p.Met183Ile Single submitter
- p.Thr561= Single submitter
- p.Tyr606His Single submitter
- p.Arg570Ter No assertion criteria ASTE1-related disorder
Uncertain significance 95
- p.Ala202Thr Single submitter ⚠
- p.Ala219Val Single submitter ⚠
- p.Ala239Thr Single submitter ⚠
- p.Ala514Thr Single submitter ⚠
- p.Ala69Pro Single submitter ⚠
- p.Arg143Trp Single submitter ⚠
- p.Arg240His Single submitter ⚠
- p.Arg255Gln Single submitter ⚠
- p.Arg38His Single submitter ⚠
- p.Arg38Pro Single submitter ⚠
- p.Arg438Lys Single submitter ⚠
- p.Arg440Trp Single submitter ⚠
- p.Arg48Gln Single submitter ⚠
- p.Arg529Gln Single submitter ⚠
- p.Arg660Gln Single submitter ⚠
- p.Asn261Ser Single submitter ⚠
- p.Asn268Lys Single submitter ⚠
- p.Asn275Ser Single submitter ⚠
- p.Asn677Ser Single submitter ⚠
- p.Asp167Glu Single submitter ⚠
- p.Asp46Tyr Single submitter ⚠
- p.Asp79Asn Single submitter ⚠
- p.Cys115Arg Single submitter ⚠
- p.Cys164Trp Single submitter ⚠
- p.Cys222Arg Single submitter ⚠
- p.Gln125Arg Single submitter ⚠
- p.Gln179His Single submitter ⚠
- p.Gln300His Single submitter ⚠
- p.Gln370His Single submitter ⚠
- p.Gln582Lys Single submitter ⚠
- p.Glu11Asp Single submitter ⚠
- p.Glu121Gln Single submitter ⚠
- p.Glu421Lys Single submitter ⚠
- p.Glu477Asp Single submitter ⚠
- p.Glu477Gln Single submitter ⚠
- p.Gly513Asp Single submitter ⚠
- p.Gly624Asp Single submitter ⚠
- p.Gly624Ser Single submitter ⚠
- p.Gly657Ala Single submitter ⚠
- p.His206Gln Single submitter ⚠
- p.His366Gln Single submitter ⚠
- p.His483Gln Single submitter ⚠
- p.His650Arg Single submitter ⚠
- p.Ile231Met Single submitter ⚠
- p.Ile28Leu Single submitter ⚠
- p.Ile30Thr Single submitter ⚠
- p.Ile454Leu Single submitter ⚠
- p.Ile596Val Single submitter ⚠
- p.Ile619Thr Single submitter ⚠
- p.Ile84Asn Single submitter ⚠
- p.Leu236Phe Single submitter ⚠
- p.Leu277Arg Single submitter ⚠
- p.Leu280Arg Single submitter ⚠
- p.Leu346Val Single submitter ⚠
- p.Leu47Arg Single submitter ⚠
- p.Leu47Ile Single submitter ⚠
- p.Leu489Pro Single submitter ⚠
- p.Leu536Ser Single submitter ⚠
- p.Leu571Arg Single submitter ⚠
- p.Leu584Pro Single submitter ⚠
- p.Leu603Phe Single submitter ⚠
- p.Lys515Arg Single submitter ⚠
- p.Lys601Glu Single submitter ⚠
- p.Lys623Glu Single submitter ⚠
- p.Lys99Met Single submitter ⚠
- p.Met183Thr Single submitter ⚠
- p.Met296Thr Single submitter ⚠
- p.Met296Val Single submitter ⚠
- p.Met7Ile Single submitter ⚠
- p.Phe172Tyr Single submitter ⚠
- p.Phe341Leu Single submitter ⚠
- p.Pro242Thr Single submitter ⚠
- p.Pro465Arg Single submitter ⚠
- p.Pro74Leu Single submitter ⚠
- p.Ser111Asn Single submitter ⚠
- p.Ser14Asn Single submitter ⚠
- p.Ser14Thr Single submitter ⚠
- p.Ser199Ala Single submitter ⚠
- p.Ser237Gly Single submitter ⚠
- p.Ser339Cys Single submitter ⚠
- p.Ser469Arg Single submitter ⚠
- p.Ser613Leu Single submitter ⚠
- p.Thr26Ile Single submitter ⚠
- p.Thr476Asn Single submitter ⚠
- p.Thr491Pro Single submitter ⚠
- p.Thr648Ala Single submitter ⚠
- p.Thr90Arg Single submitter ⚠
- p.Thr91Ser Single submitter ⚠
- p.Trp392Cys Single submitter ⚠
- p.Tyr315Cys Single submitter ⚠
- p.Val276Ile Single submitter ⚠
- p.Val347Ile Single submitter ⚠
- p.Val590Ala Single submitter ⚠
- p.Val590Ile Single submitter ⚠
- p.Val77Ile Single submitter ⚠