PRKAA2 — 65 ClinVar variants
All ClinVar germline PRKAA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
5 Benign · 4 Likely benign · 56 Uncertain significance
Full PRKAA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PRKAA2 p.Arg110Trp Uncertain significance Single submitter
- PRKAA2 p.Arg138Gln Uncertain significance Single submitter
- PRKAA2 p.Arg239Cys Uncertain significance Single submitter
- PRKAA2 p.Arg239His Uncertain significance Single submitter
- PRKAA2 p.Arg331Gln Uncertain significance Single submitter
- PRKAA2 p.Arg488Cys Uncertain significance Single submitter
- PRKAA2 p.Arg488His Uncertain significance Single submitter
- PRKAA2 p.Asn449Ser Uncertain significance Single submitter
- PRKAA2 p.Asp196Gly Uncertain significance Single submitter
- PRKAA2 p.Asp20Asn Uncertain significance Single submitter
- PRKAA2 p.Asp271Gly Uncertain significance Single submitter
- PRKAA2 p.Cys490Phe Uncertain significance Single submitter
- PRKAA2 p.Gln5His Uncertain significance Single submitter
- PRKAA2 p.Glu112Gln Uncertain significance Single submitter
- PRKAA2 p.Glu266Gln Uncertain significance Single submitter
- PRKAA2 p.Gly159Arg Uncertain significance Single submitter
- PRKAA2 p.Gly201Ser Uncertain significance Single submitter
- PRKAA2 p.Gly314Cys Uncertain significance Single submitter
- PRKAA2 p.Gly349Ser Uncertain significance Single submitter
- PRKAA2 p.Gly514Asp Uncertain significance Single submitter
- PRKAA2 p.His7Asn Uncertain significance Single submitter
- PRKAA2 p.His7Gln Uncertain significance Single submitter
- PRKAA2 p.Ile374Thr Uncertain significance Single submitter
- PRKAA2 p.Leu532Arg Uncertain significance Single submitter
- PRKAA2 p.Phe428Val Uncertain significance Single submitter
- PRKAA2 p.Pro445Ser Uncertain significance Single submitter
- PRKAA2 p.Pro486Leu Uncertain significance Single submitter
- PRKAA2 p.Ser410Arg Uncertain significance Single submitter
- PRKAA2 p.Ser454Asn Uncertain significance Single submitter
- PRKAA2 p.Thr389Met Uncertain significance Single submitter
- PRKAA2 p.Thr485Ala Uncertain significance Single submitter
- PRKAA2 p.Thr506Ala Uncertain significance Single submitter
- PRKAA2 p.Thr506Asn Uncertain significance Single submitter
- PRKAA2 p.Thr549Ala Uncertain significance Single submitter
- PRKAA2 p.Tyr458His Uncertain significance Single submitter
- PRKAA2 p.Val17Met Uncertain significance Single submitter
- PRKAA2 p.Val219Ala Uncertain significance Single submitter
- PRKAA2 p.Val287Ile Uncertain significance Single submitter
- PRKAA2 p.Val432Ile Uncertain significance Single submitter
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PRKAA2 p.Arg118Trp
Uncertain significance
No assertion criteria
High myopia
Predictors split 13
The independent predictors disagree with each other — read with care.
- PRKAA2 p.Ala417Val Uncertain significance Single submitter
- PRKAA2 p.Arg439His Uncertain significance Single submitter
- PRKAA2 p.Arg552Cys Uncertain significance Single submitter
- PRKAA2 p.Cys106Phe Uncertain significance Single submitter
- PRKAA2 p.Gly522Arg Uncertain significance Single submitter
- PRKAA2 p.Ile105Val Uncertain significance Single submitter
- PRKAA2 p.Met164Ile Uncertain significance Single submitter
- PRKAA2 p.Ser338Arg Uncertain significance Single submitter
- PRKAA2 p.Ser519Phe Uncertain significance Single submitter
- PRKAA2 p.Thr221Met Uncertain significance Single submitter
- PRKAA2 p.Tyr341Cys Uncertain significance Single submitter
- PRKAA2 p.Val296Leu Uncertain significance Single submitter
- PRKAA2 p.Val440Leu Uncertain significance Single submitter
All PRKAA2 variants
Benign 5
- c.95-7T>C Multiple submitters
- p.Leu467= Multiple submitters
- c.789-4C>T Single submitter
- p.Ser313= Single submitter
- p.Leu37= No assertion criteria PRKAA2-related disorder
Likely benign 4
- p.Pro412= Single submitter
- p.Gln250Arg No assertion criteria PRKAA2-related disorder
- p.Thr243Ile No assertion criteria PRKAA2-related disorder
- p.Thr521= No assertion criteria PRKAA2-related disorder
Uncertain significance 56
- p.Ala417Val Single submitter ⚠
- p.Arg110Trp Single submitter ⚠
- p.Arg138Gln Single submitter ⚠
- p.Arg239Cys Single submitter ⚠
- p.Arg239His Single submitter ⚠
- p.Arg331Gln Single submitter ⚠
- p.Arg439His Single submitter ⚠
- p.Arg488Cys Single submitter ⚠
- p.Arg488His Single submitter ⚠
- p.Arg552Cys Single submitter ⚠
- p.Asn449Ser Single submitter ⚠
- p.Asp196Gly Single submitter ⚠
- p.Asp20Asn Single submitter ⚠
- p.Asp271Gly Single submitter ⚠
- p.Cys106Phe Single submitter ⚠
- p.Cys490Phe Single submitter ⚠
- p.Gln50fs Single submitter
- p.Gln5His Single submitter ⚠
- p.Glu112Gln Single submitter ⚠
- p.Glu266Gln Single submitter ⚠
- p.Gly159Arg Single submitter ⚠
- p.Gly201Ser Single submitter ⚠
- p.Gly314Cys Single submitter ⚠
- p.Gly349Ser Single submitter ⚠
- p.Gly514Asp Single submitter ⚠
- p.Gly522Arg Single submitter ⚠
- p.His15Tyr Single submitter
- p.His7Asn Single submitter ⚠
- p.His7Gln Single submitter ⚠
- p.Ile105Val Single submitter ⚠
- p.Ile374Thr Single submitter ⚠
- p.Leu532Arg Single submitter ⚠
- p.Met164Ile Single submitter ⚠
- p.Phe428Val Single submitter ⚠
- p.Pro445Ser Single submitter ⚠
- p.Pro486Leu Single submitter ⚠
- p.Ser338Arg Single submitter ⚠
- p.Ser410Arg Single submitter ⚠
- p.Ser454Asn Single submitter ⚠
- p.Ser519Phe Single submitter ⚠
- p.Thr221Met Single submitter ⚠
- p.Thr389Met Single submitter ⚠
- p.Thr485Ala Single submitter ⚠
- p.Thr506Ala Single submitter ⚠
- p.Thr506Asn Single submitter ⚠
- p.Thr549Ala Single submitter ⚠
- p.Tyr312Asp Single submitter
- p.Tyr341Cys Single submitter ⚠
- p.Tyr458His Single submitter ⚠
- p.Val17Met Single submitter ⚠
- p.Val219Ala Single submitter ⚠
- p.Val287Ile Single submitter ⚠
- p.Val296Leu Single submitter ⚠
- p.Val432Ile Single submitter ⚠
- p.Val440Leu Single submitter ⚠
- p.Arg118Trp No assertion criteria High myopia ⚠