V6L (p.Val6Leu) variant of RAD51D (O75771)
V6L (p.Val6Leu) 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; not specified; Breast-ovarian cancer, f. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
V6L (p.Val6Leu) variant details
- p.Val6Leu
- rs368198698
- ClinGen CA290007306
- ClinVar RCV001192468
- ClinVar RCV001859166
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified; Breast-ovarian cancer, f
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.04
- CADD 20.50
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; Breast-o)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 6e-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)