V9L (p.Val9Leu) variant of POLH (DNA polymerase eta)
V9L (p.Val9Leu) in POLH (DNA polymerase eta) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V9L (p.Val9Leu) variant details
- p.Val9Leu
- ExAC rs781288440
- TOPMed rs781288440
- gnomAD rs781288440
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.68
- MetaLR 0.15
- MetaSVM -0.86
- CADD 22.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available