A65T (p.Ala65Thr) variant of POLH (DNA polymerase eta)
A65T (p.Ala65Thr) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A65T (p.Ala65Thr) variant details
- p.Ala65Thr
- gnomAD 6-43583062-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.31
- CADD 27.90
- PolyPhen-2 0.96
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available