R5S (p.Arg5Ser) variant of RAD51D (O75771)
R5S (p.Arg5Ser) 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 0.29 / 1. The record also includes population frequency data and structural context.
R5S (p.Arg5Ser) variant details
- p.Arg5Ser
- rs2142480932
- Ensembl rs2142480932
- ClinGen CA399092565
- ClinVar RCV002016902
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.26
- CADD 22.40
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available