T122D (p.Thr122Asp) variant of ERCC2 (P18074)
T122D (p.Thr122Asp) in ERCC2 (P18074) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data and structural context.
T122D (p.Thr122Asp) variant details
- p.Thr122Asp
- rs1235040517
- ClinGen CA882711707
- ClinVar RCV003727416
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available