D6N (p.Asp6Asn) variant of POLH (DNA polymerase eta)
D6N (p.Asp6Asn) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D6N (p.Asp6Asn) variant details
- p.Asp6Asn
- gnomAD rs1246593709
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.09
- MetaSVM -1.02
- CADD 24.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available