S51T (p.Ser51Thr) variant of POLH (DNA polymerase eta)
S51T (p.Ser51Thr) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S51T (p.Ser51Thr) variant details
- p.Ser51Thr
- gnomAD 6-43583021-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.68
- MetaLR 0.53
- MetaSVM -0.00
- CADD 26.90
- Population evidence available
- Structural context available
- Literature evidence available