R24K (p.Arg24Lys) variant of RAD51D (O75771)
R24K (p.Arg24Lys) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Breast-ovarian cancer, fa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R24K (p.Arg24Lys) variant details
- p.Arg24Lys
- rs947444435
- ClinGen CA290007242
- ClinVar RCV000775968
- ClinVar RCV001218852
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Breast-ovarian cancer, fa
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.03
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Breast-ov)
- EBI: Variant of uncertain significance (in dbSNP:rs28363257)
- UniProt: Uncertain significance (in dbSNP:rs28363257)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)