R42W (p.Arg42Trp) variant of POLG (DNA polymerase subunit gamma-1)
R42W (p.Arg42Trp) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, 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 0.35 / 1. The record also includes population frequency data and structural context.
R42W (p.Arg42Trp) variant details
- p.Arg42Trp
- ExAC rs755553960
- TOPMed rs755553960
- gnomAD rs755553960
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.24
- CADD 18.70
- PolyPhen-2 0.07
- SIFT 0.03
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available