D28V (p.Asp28Val) variant of ERCC4 (DNA repair endonuclease XPF)
D28V (p.Asp28Val) in ERCC4 (DNA repair endonuclease XPF) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
D28V (p.Asp28Val) variant details
- p.Asp28Val
- ESP rs367608263
- ExAC rs367608263
- TOPMed rs367608263
- gnomAD rs367608263
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available