PFKP — 156 ClinVar variants

All ClinVar germline PFKP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →

13 Benign · 20 Likely benign · 123 Uncertain significance

Full PFKP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 116

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 89

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 27

The independent predictors disagree with each other — read with care.

All PFKP variants

Benign 13

p.Ala699= Multiple submitters
p.Asn348= Multiple submitters
p.Asp769= Multiple submitters
p.Ile550= Multiple submitters
p.Phe610= Multiple submitters
p.Ser569= Multiple submitters
p.Ser771= Multiple submitters
p.Thr313= Multiple submitters
p.Thr713= Multiple submitters
c.666-4A>G Single submitter
p.Ala597= Single submitter
p.Thr739= Single submitter
p.Tyr645= Single submitter

Likely benign 20

c.1684-4588C>G Single submitter
p.Ala234= Single submitter
p.Ala438= Single submitter
p.Asp69= Single submitter
p.Glu526Gly Single submitter
p.Ile74= Single submitter
p.Leu136= Single submitter
p.Lys737Gln Single submitter
p.Phe238= Single submitter
p.Ser642Asn Single submitter
p.Ser81= Single submitter
p.Trp248fs Single submitter Anophthalmia-microphthalmia syndrome
p.Tyr52= Single submitter
p.Tyr58= Single submitter
p.Tyr61= Single submitter
p.Val198Ile Single submitter
c.1849-11CT[2] No assertion criteria PFKP-related disorder
c.2122+9T>A No assertion criteria PFKP-related disorder
p.Lys709Ile No assertion criteria PFKP-related disorder
p.Ser257= No assertion criteria PFKP-related disorder

Uncertain significance 123

c.1848+1G>C Single submitter
p.Ala234Glu Single submitter ⚠
p.Ala275Glu Single submitter ⚠
p.Ala370Val Single submitter ⚠
p.Ala398Val Single submitter
p.Ala427Val Single submitter ⚠
p.Ala428Gly Single submitter ⚠
p.Ala445Thr Single submitter
p.Ala454Thr Single submitter ⚠
p.Ala502Val Single submitter ⚠
p.Ala537Thr Single submitter
p.Ala603Thr Single submitter ⚠
p.Ala733Val Single submitter ⚠
p.Ala96Val Single submitter ⚠
p.Arg102Cys Single submitter ⚠
p.Arg104Gln Single submitter ⚠
p.Arg107Cys Single submitter ⚠
p.Arg107His Single submitter ⚠
p.Arg117His Single submitter ⚠
p.Arg138Gln Single submitter ⚠
p.Arg150Gly Single submitter ⚠
p.Arg262Trp Single submitter ⚠
p.Arg310Lys Single submitter ⚠
p.Arg319Ser Single submitter ⚠
p.Arg354Cys Single submitter ⚠
p.Arg354His Single submitter ⚠
p.Arg374Gly Single submitter ⚠
p.Arg381Leu Single submitter ⚠
p.Arg496Cys Single submitter ⚠
p.Arg522Gln Single submitter ⚠
p.Arg565His Single submitter ⚠
p.Arg705Trp Single submitter ⚠
p.Arg725Lys Single submitter ⚠
p.Asn113His Single submitter ⚠
p.Asn410Ser Single submitter ⚠
p.Asn541Asp Single submitter ⚠
p.Asp378Glu Single submitter ⚠
p.Asp439Asn Single submitter ⚠
p.Asp547Asn Single submitter ⚠
p.Asp561Asn Single submitter ⚠
p.Asp648Glu Single submitter
p.Asp714Asn Single submitter ⚠
p.Asp714Gly Single submitter ⚠
p.Cys411Ser Single submitter ⚠
p.Gln457Pro Single submitter ⚠
p.Glu249Asp Single submitter
p.Glu373Asp Single submitter ⚠
p.Glu460Asp Single submitter ⚠
p.Glu523Lys Single submitter ⚠
p.Glu581Lys Single submitter ⚠
p.Glu624Gln Single submitter ⚠
p.Glu656Gln Single submitter ⚠
p.Glu703Ala Single submitter ⚠
p.Glu734Lys Single submitter ⚠
p.Gly118Ser Single submitter ⚠
p.Gly126Ser Single submitter ⚠
p.Gly126Val Single submitter ⚠
p.Gly233Arg Single submitter ⚠
p.Gly297Val Single submitter ⚠
p.Gly384Val Single submitter ⚠
p.Gly440Ser Single submitter ⚠
p.Gly471Ser Single submitter ⚠
p.Gly507Arg Single submitter ⚠
p.Gly507Ser Single submitter ⚠
p.Gly551Arg Single submitter ⚠
p.Gly599Glu Single submitter ⚠
p.Gly658Ser Single submitter ⚠
p.Gly70Arg Single submitter ⚠
p.Gly71Ser Single submitter ⚠
p.His778Gln Single submitter ⚠
p.Ile288Val Single submitter ⚠
p.Ile416Val Single submitter ⚠
p.Ile458Val Single submitter ⚠
p.Ile559Val Single submitter ⚠
p.Ile697Val Single submitter ⚠
p.Ile74Thr Single submitter ⚠
p.Leu115Gln Single submitter ⚠
p.Leu483Phe Single submitter ⚠
p.Leu516Val Single submitter ⚠
p.Leu518Met Single submitter ⚠
p.Lys455Gln Single submitter ⚠
p.Lys700Thr Single submitter ⚠
p.Lys702Glu Single submitter ⚠
p.Lys709Arg Single submitter ⚠
p.Lys710Asn Single submitter ⚠
p.Met252Leu Single submitter ⚠
p.Met532Lys Single submitter ⚠
p.Met534Thr Single submitter
p.Met694Ile Single submitter ⚠
p.Phe376Leu Single submitter ⚠
p.Phe711Cys Single submitter ⚠
p.Phe741Leu Single submitter ⚠
p.Pro282Arg Single submitter ⚠
p.Pro338Ala Single submitter ⚠
p.Pro341Leu Single submitter ⚠
p.Pro356Leu Single submitter ⚠
p.Pro402Leu Single submitter ⚠
p.Pro407Leu Single submitter ⚠
p.Pro531Ser Single submitter ⚠
p.Ser130Gly Single submitter ⚠
p.Ser142Thr Single submitter ⚠
p.Ser257Leu Single submitter ⚠
p.Ser81Asn Single submitter ⚠
p.Thr103Met Single submitter ⚠
p.Thr464Ala Single submitter ⚠
p.Thr562Asn Single submitter ⚠
p.Thr623Met Single submitter ⚠
p.Thr646Ala Single submitter ⚠
p.Thr91Ser Single submitter ⚠
p.Trp463Leu Single submitter ⚠
p.Trp751Cys Single submitter ⚠
p.Val344Ile Single submitter ⚠
p.Val353Met Single submitter ⚠
p.Val413Ile Single submitter ⚠
p.Val429Ile Single submitter ⚠
p.Val435Leu Single submitter ⚠
p.Val435Met Single submitter ⚠
p.Val43Ile Single submitter ⚠
p.Val533Phe Single submitter ⚠
p.Val727Ile Single submitter ⚠
p.Val770Met Single submitter ⚠
p.Val784Ile Single submitter ⚠
p.Val88Met Single submitter ⚠