C9* (p.Cys9Ter) variant of RAD51D (O75771)
C9* (p.Cys9Ter) in RAD51D (O75771) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
C9* (p.Cys9Ter) variant details
- p.Cys9Ter
- rs2509189216
- ClinGen CA2582342161
- ClinVar RCV003334756
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 35.00
- EBI: Pathogenic (in dbSNP:rs140825795)
- UniProt: Pathogenic (in dbSNP:rs140825795)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available