I17V (p.Ile17Val) variant of RAD51D (O75771)
I17V (p.Ile17Val) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
I17V (p.Ile17Val) variant details
- p.Ile17Val
- rs1002032036
- ClinGen CA290007271
- ClinVar RCV000816764
- ClinVar RCV000986016
- Conflicting interpretations
- Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.03
- CADD 13.30
- 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
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)