A49S (p.Ala49Ser) variant of POLH (DNA polymerase eta)
A49S (p.Ala49Ser) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
A49S (p.Ala49Ser) variant details
- p.Ala49Ser
- ExAC rs774751759
- gnomAD rs774751759
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- ESM-1b 1.00
- AlphaMissense 0.21
- Structural context available