F6L (p.Phe6Leu) variant of RAD51C (O43502)
F6L (p.Phe6Leu) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Fanconi anemia complementation group O; Hereditary cancer-predispo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
F6L (p.Phe6Leu) variant details
- p.Phe6Leu
- rs774685897
- ClinGen CA400336227
- ClinVar RCV001065676
- ClinVar RCV002411589
- Conflicting interpretations
- not provided; Fanconi anemia complementation group O; Hereditary cancer-predispo
- Missense
- Variant Prioritization Score for Impact Estimate 0.0377
- REVEL 0.02
- CADD 1.51
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Fanconi anemia complementation group O; Hereditary)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)