D6N (p.Asp6Asn) variant of ERCC2 (P18074)
D6N (p.Asp6Asn) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D6N (p.Asp6Asn) variant details
- p.Asp6Asn
- gnomAD rs1388963841
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.48
- CADD 25.40
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available