S22R (p.Ser22Arg) variant of RAD51D (O75771)
S22R (p.Ser22Arg) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Breast-ovarian cancer, familial, susceptibility to, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
S22R (p.Ser22Arg) variant details
- p.Ser22Arg
- rs876660902
- TOPMed rs876660902
- gnomAD rs876660902
- ClinGen CA399092326
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.02
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available