D28N (p.Asp28Asn) variant of ERCC4 (DNA repair endonuclease XPF)
D28N (p.Asp28Asn) in ERCC4 (DNA repair endonuclease XPF) 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.
D28N (p.Asp28Asn) variant details
- p.Asp28Asn
- TOPMed rs1188439403
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.06
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available