A957S (p.Ala957Ser) variant of POLG (DNA polymerase subunit gamma-1)
A957S (p.Ala957Ser) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
A957S (p.Ala957Ser) variant details
- p.Ala957Ser
- rs121918051
- ClinGen CA256895
- ClinVar RCV000014462
- ClinVar RCV003460472
- Pathogenic/Likely pathogenic
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- AlphaMissense 0.38
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.56
- ClinVar: Pathogenic/Likely pathogenic (Progressive sclerosing poliodystrophy)
- EBI: Pathogenic (in PEOA1)
- UniProt: Pathogenic (in PEOA1)
- Structural context available
- Cited in: Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive… (PMID 12210792)
- Cited in: Single Large-Scale Mitochondrial DNA Deletion Syndromes. (PMID 20301382)