V8G (p.Val8Gly) variant of POLH (DNA polymerase eta)
V8G (p.Val8Gly) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
V8G (p.Val8Gly) variant details
- p.Val8Gly
- Ensembl rs1764374380
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.61
- MetaLR 0.46
- MetaSVM -0.03
- CADD 28.10
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available