G58V (p.Gly58Val) variant of POLH (DNA polymerase eta)
G58V (p.Gly58Val) 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 and structural context.
G58V (p.Gly58Val) variant details
- p.Gly58Val
- cosmic curated COSV64780
- ExAC rs756182088
- gnomAD rs756182088
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.95
- MetaSVM 1.07
- CADD 29.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available