W25R (p.Trp25Arg) variant of POLG (DNA polymerase subunit gamma-1)
W25R (p.Trp25Arg) 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 0.35 / 1. The record also includes population frequency data and structural context.
W25R (p.Trp25Arg) variant details
- p.Trp25Arg
- Ensembl rs2055630808
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.41
- CADD 19.50
- PolyPhen-2 0.37
- SIFT 0.10
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available