A56T (p.Ala56Thr) variant of POLH (DNA polymerase eta)
A56T (p.Ala56Thr) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- Ensembl rs1561897575
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.45
- MetaSVM -0.35
- CADD 28.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available