R30G (p.Arg30Gly) variant of ERCC2 (P18074)
R30G (p.Arg30Gly) in ERCC2 (P18074) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R30G (p.Arg30Gly) variant details
- p.Arg30Gly
- ExAC rs769614088
- TOPMed rs769614088
- gnomAD rs769614088
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available