D66N (p.Asp66Asn) variant of POLH (DNA polymerase eta)
D66N (p.Asp66Asn) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D66N (p.Asp66Asn) variant details
- p.Asp66Asn
- gnomAD 6-43583065-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.08
- CADD 26.10
- PolyPhen-2 0.96
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available