L71S (p.Leu71Ser) variant of POLH (DNA polymerase eta)
L71S (p.Leu71Ser) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L71S (p.Leu71Ser) variant details
- p.Leu71Ser
- gnomAD 6-43583081-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.33
- CADD 27.70
- PolyPhen-2 0.97
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available