V50G (p.Val50Gly) variant of POLH (DNA polymerase eta)
V50G (p.Val50Gly) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
V50G (p.Val50Gly) variant details
- p.Val50Gly
- gnomAD rs1764457268
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.44
- MetaSVM -0.06
- CADD 29.40
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available