R46K (p.Arg46Lys) variant of FANCC (Fanconi anemia group C protein)
R46K (p.Arg46Lys) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R46K (p.Arg46Lys) variant details
- p.Arg46Lys
- rs765058606
- ClinGen CA5137830
- ClinVar RCV004520512
- ExAC rs765058606
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- AlphaMissense 0.09
- MetaLR 0.09
- MetaSVM -1.06
- PolyPhen-2 0.13
- SIFT 0.31
- EVE 0.14
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)