V36A (p.Val36Ala) variant of POLH (DNA polymerase eta)
V36A (p.Val36Ala) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
V36A (p.Val36Ala) variant details
- p.Val36Ala
- gnomAD 6-43582426-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.78
- MetaSVM 0.82
- CADD 26.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available