V59I (p.Val59Ile) variant of POLH (DNA polymerase eta)
V59I (p.Val59Ile) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V59I (p.Val59Ile) variant details
- p.Val59Ile
- cosmic curated COSV10094
- ExAC rs753949826
- gnomAD rs753949826
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.53
- MetaSVM -0.14
- CADD 26.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available