R807C (p.Arg807Cys) variant of POLG (DNA polymerase subunit gamma-1)
R807C (p.Arg807Cys) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R807C (p.Arg807Cys) variant details
- p.Arg807Cys
- rs769827124
- ClinGen CA7724495
- NCI-TCGA Cosmic COSV5152
- cosmic curated COSV51520
- Pathogenic
- Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Progressive sclerosing poliodystrophy; Progressive external opht)
- EBI: Pathogenic (in SANDO)
- UniProt: Pathogenic (in SANDO)
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available
- Cited in: SANDO: two novel mutations in POLG1 gene. (PMID 16919951)
- Cited in: POLG-Related Disorders. (PMID 20301791)