F17L (p.Phe17Leu) variant of RAD51C (O43502)
F17L (p.Phe17Leu) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia complementation group O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
F17L (p.Phe17Leu) variant details
- p.Phe17Leu
- rs1598448876
- ClinGen CA400336685
- ClinVar RCV001023709
- Ensembl rs1598448876
- Uncertain significance
- Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- AlphaMissense 0.67
- MetaLR 0.03
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.35
- ClinVar: Uncertain significance (Fanconi anemia complementation group O)
- EBI: Likely benign
- UniProt: Likely benign
- 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)
- Cited in: Fanconi Anemia. (PMID 20301575)