A49E (p.Ala49Glu) variant of POLH (DNA polymerase eta)
A49E (p.Ala49Glu) in POLH (DNA polymerase eta) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
A49E (p.Ala49Glu) variant details
- p.Ala49Glu
- Ensembl rs1764457135
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- ESM-1b 1.00
- AlphaMissense 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available