R41W (p.Arg41Trp) variant of POLG (DNA polymerase subunit gamma-1)
R41W (p.Arg41Trp) in POLG (DNA polymerase subunit gamma-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R41W (p.Arg41Trp) variant details
- p.Arg41Trp
- cosmic curated COSV51523
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.21
- CADD 18.30
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available