D15H (p.Asp15His) variant of POLH (DNA polymerase eta)
D15H (p.Asp15His) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
D15H (p.Asp15His) variant details
- p.Asp15His
- gnomAD 6-43582362-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.81
- MetaSVM 0.85
- CADD 29.30
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available