H54D (p.His54Asp) variant of ERCC5 (P28715)
H54D (p.His54Asp) in ERCC5 (P28715) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
H54D (p.His54Asp) variant details
- p.His54Asp
- TOPMed rs1333614535
- gnomAD rs1333614535
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available