A10D (p.Ala10Asp) variant of POLH (DNA polymerase eta)
A10D (p.Ala10Asp) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A10D (p.Ala10Asp) variant details
- p.Ala10Asp
- gnomAD 6-43582348-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.43
- MetaSVM -0.03
- CADD 23.50
- Population evidence available
- Structural context available
- Literature evidence available