I67V (p.Ile67Val) variant of FANCC (Fanconi anemia group C protein)
I67V (p.Ile67Val) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
I67V (p.Ile67Val) variant details
- p.Ile67Val
- rs2542843617
- ClinGen CA374340096
- ClinVar RCV002417061
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.08
- CADD 16.70
- PolyPhen-2 0.03
- SIFT 0.30
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)