G45C (p.Gly45Cys) variant of POLH (DNA polymerase eta)
G45C (p.Gly45Cys) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G45C (p.Gly45Cys) variant details
- p.Gly45Cys
- gnomAD 6-43582452-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.81
- MetaLR 0.65
- MetaSVM 0.45
- CADD 28.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available