L11V (p.Leu11Val) variant of POLH (DNA polymerase eta)
L11V (p.Leu11Val) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- ExAC rs745934083
- gnomAD rs745934083
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.45
- MetaLR 0.39
- MetaSVM -0.31
- CADD 22.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available