R309H (p.Arg309His) variant of POLG (DNA polymerase subunit gamma-1)
R309H (p.Arg309His) 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 not provided; Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R309H (p.Arg309His) variant details
- p.Arg309His
- rs780953863
- ClinGen CA7724998
- cosmic curated COSV10803
- NCI-TCGA Cosmic COSV5152
- Pathogenic
- not provided; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.95
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Progressive sclerosing poliodystrophy)
- EBI: Pathogenic (in PEOB1)
- UniProt: Pathogenic (in PEOB1)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)