F6Y (p.Phe6Tyr) variant of RAD51C (O43502)
F6Y (p.Phe6Tyr) 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 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
F6Y (p.Phe6Tyr) variant details
- p.Phe6Tyr
- rs771332058
- ClinGen CA8677122
- ClinVar RCV000465983
- ClinVar RCV000486672
- Conflicting interpretations
- Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.03
- AlphaMissense 0.12
- MetaLR 0.03
- MetaSVM -1.01
- CADD 5.04
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Fanconi anemia complementation group O; Hereditary cancer-predis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)