A68V (p.Ala68Val) variant of POLH (DNA polymerase eta)
A68V (p.Ala68Val) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A68V (p.Ala68Val) variant details
- p.Ala68Val
- gnomAD 6-43583072-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available