R3C (p.Arg3Cys) variant of POLG (DNA polymerase subunit gamma-1)
R3C (p.Arg3Cys) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- Ensembl rs1484763580
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.57
- CADD 32.00
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- UniProt: Uncertain significance (in PEOB1 and SANDO)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available