C34W (p.Cys34Trp) variant of POLH (DNA polymerase eta)
C34W (p.Cys34Trp) in POLH (DNA polymerase eta) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
C34W (p.Cys34Trp) variant details
- p.Cys34Trp
- ESP rs371810027
- TOPMed rs371810027
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- ESM-1b 1.00
- AlphaMissense 0.95
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available