G38W (p.Gly38Trp) variant of POLG (DNA polymerase subunit gamma-1)
G38W (p.Gly38Trp) 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 0.34 / 1. The record also includes population frequency data and structural context.
G38W (p.Gly38Trp) variant details
- p.Gly38Trp
- TOPMed rs866945104
- gnomAD rs866945104
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.18
- CADD 25.50
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available