D66G (p.Asp66Gly) variant of POLH (DNA polymerase eta)
D66G (p.Asp66Gly) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D66G (p.Asp66Gly) variant details
- p.Asp66Gly
- TOPMed rs1240951682
- gnomAD rs1240951682
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.28
- MetaSVM -0.58
- CADD 28.40
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available