A957V (p.Ala957Val) variant of POLG (DNA polymerase subunit gamma-1)
A957V (p.Ala957Val) 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 Mitochondrial DNA depletion syndrome; not provided; Progressive sclerosing polio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
A957V (p.Ala957Val) variant details
- p.Ala957Val
- rs753160398
- ClinGen CA7724336
- ClinVar RCV000304218
- ClinVar RCV000758268
- Pathogenic/Likely pathogenic
- Mitochondrial DNA depletion syndrome; not provided; Progressive sclerosing polio
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.97
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mitochondrial DNA depletion syndrome; not provided; Progressive)
- EBI: Pathogenic (in PEOA1)
- UniProt: Pathogenic (in PEOA1)
- Population evidence available
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)