R24G (p.Arg24Gly) variant of RAD51D (O75771)
R24G (p.Arg24Gly) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R24G (p.Arg24Gly) variant details
- p.Arg24Gly
- rs781611267
- ClinGen CA8499699
- ClinVar RCV000649692
- ClinVar RCV001190144
- Conflicting interpretations
- Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.01
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Breast-ovarian cancer, familial, susceptibility to, 4; Hereditar)
- EBI: Variant of uncertain significance (in dbSNP:rs28363257)
- UniProt: Uncertain significance (in dbSNP:rs28363257)
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)