D15Y (p.Asp15Tyr) variant of POLH (DNA polymerase eta)
D15Y (p.Asp15Tyr) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
D15Y (p.Asp15Tyr) variant details
- p.Asp15Tyr
- TOPMed rs1430374606
- gnomAD rs1430374606
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.81
- MetaSVM 0.85
- CADD 31.00
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available