R24S (p.Arg24Ser) variant of RAD51D (O75771)
R24S (p.Arg24Ser) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R24S (p.Arg24Ser) variant details
- p.Arg24Ser
- rs28363257
- ClinGen CA8499698
- ClinVar RCV000226520
- ClinVar RCV000562459
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.06
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Breast-ovarian cancer,)
- EBI: Likely benign (in dbSNP:rs28363257)
- UniProt: Likely benign (in dbSNP:rs28363257)
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)