D15G (p.Asp15Gly) variant of POLH (DNA polymerase eta)
D15G (p.Asp15Gly) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
D15G (p.Asp15Gly) variant details
- p.Asp15Gly
- gnomAD 6-43582363-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.79
- MetaSVM 0.84
- CADD 29.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available