V36L (p.Val36Leu) variant of POLH (DNA polymerase eta)
V36L (p.Val36Leu) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
V36L (p.Val36Leu) variant details
- p.Val36Leu
- gnomAD 6-43582425-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.78
- MetaSVM 0.73
- CADD 26.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available