A35G (p.Ala35Gly) variant of POLH (DNA polymerase eta)
A35G (p.Ala35Gly) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A35G (p.Ala35Gly) variant details
- p.Ala35Gly
- gnomAD 6-43582423-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.60
- MetaLR 0.39
- MetaSVM -0.35
- CADD 24.90
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available