V8L (p.Val8Leu) variant of POLH (DNA polymerase eta)
V8L (p.Val8Leu) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
V8L (p.Val8Leu) variant details
- p.Val8Leu
- gnomAD 6-43582341-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.61
- MetaLR 0.41
- MetaSVM -0.32
- CADD 26.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available