E19K (p.Glu19Lys) variant of ERCC4 (DNA repair endonuclease XPF)
E19K (p.Glu19Lys) in ERCC4 (DNA repair endonuclease XPF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of XFE progeroid syndrome. The record also includes structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- rs1210853201
- ClinGen CA394815993
- ClinVar RCV003990100
- Uncertain significance
- XFE progeroid syndrome
- Missense
- ClinVar: Uncertain significance (XFE progeroid syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available