D28H (p.Asp28His) variant of ERCC4 (DNA repair endonuclease XPF)
D28H (p.Asp28His) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
D28H (p.Asp28His) variant details
- p.Asp28His
- cosmic curated COSV10460
- TOPMed rs1188439403
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.03
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.95
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available