Y39C (p.Tyr39Cys) variant of POLH (DNA polymerase eta)
Y39C (p.Tyr39Cys) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
Y39C (p.Tyr39Cys) variant details
- p.Tyr39Cys
- ExAC rs751889218
- TOPMed rs751889218
- gnomAD rs751889218
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.57
- MetaSVM 0.21
- CADD 27.70
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available