A65V (p.Ala65Val) variant of POLH (DNA polymerase eta)
A65V (p.Ala65Val) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A65V (p.Ala65Val) variant details
- p.Ala65Val
- gnomAD 6-43583063-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.38
- ESM-1b 0.91
- AlphaMissense 0.25
- CADD 23.70
- PolyPhen-2 0.45
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available