V15A (p.Val15Ala) variant of RAD51C (O43502)
V15A (p.Val15Ala) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
V15A (p.Val15Ala) variant details
- p.Val15Ala
- rs1060502593
- ClinGen CA400336599
- ClinVar RCV001022594
- ClinVar RCV002551856
- Conflicting interpretations
- Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- AlphaMissense 0.06
- MetaLR 0.05
- MetaSVM -1.07
- PolyPhen-2 0.00
- SIFT 0.41
- MutPred 0.47
- ClinVar: Conflicting classifications of pathogenicity (Fanconi anemia complementation group O; Hereditary cancer-predis)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)