C16Y (p.Cys16Tyr) variant of POLH (DNA polymerase eta)
C16Y (p.Cys16Tyr) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
C16Y (p.Cys16Tyr) variant details
- p.Cys16Tyr
- ExAC rs780033894
- gnomAD rs780033894
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.45
- MetaSVM -0.17
- CADD 28.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available