S41P (p.Ser41Pro) variant of POLH (DNA polymerase eta)
S41P (p.Ser41Pro) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S41P (p.Ser41Pro) variant details
- p.Ser41Pro
- gnomAD 6-43582440-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.30
- ESM-1b 0.18
- AlphaMissense 0.13
- MetaLR 0.06
- MetaSVM -1.10
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available