W42C (p.Trp42Cys) variant of POLH (DNA polymerase eta)
W42C (p.Trp42Cys) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
W42C (p.Trp42Cys) variant details
- p.Trp42Cys
- ExAC rs374515054
- gnomAD rs374515054
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.60
- MetaSVM 0.14
- CADD 32.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available