A2T (p.Ala2Thr) variant of POLH (DNA polymerase eta)
A2T (p.Ala2Thr) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 6-43582323-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.05
- ESM-1b 0.51
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.04
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available