A10V (p.Ala10Val) variant of POLG (DNA polymerase subunit gamma-1)
A10V (p.Ala10Val) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- rs774459114
- ClinGen CA7725214
- ClinVar RCV000537593
- ClinVar RCV006438206
- Likely benign
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.27
- CADD 21.70
- PolyPhen-2 0.38
- SIFT 0.06
- ClinVar: Likely benign (Progressive sclerosing poliodystrophy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)