C9W (p.Cys9Trp) variant of RAD51D (O75771)
C9W (p.Cys9Trp) in RAD51D (O75771) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data and structural context.
C9W (p.Cys9Trp) variant details
- p.Cys9Trp
- 1000Genomes rs200487648
- ExAC rs200487648
- TOPMed rs200487648
- gnomAD rs200487648
- Pathogenic
- Missense
- EBI: Pathogenic (in dbSNP:rs140825795)
- UniProt: Pathogenic (in dbSNP:rs140825795)
- Population evidence available
- Structural context available