S9F (p.Ser9Phe) variant of FANCC (Fanconi anemia group C protein)
S9F (p.Ser9Phe) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- rs767124692
- ClinGen CA5137848
- ClinVar RCV004520528
- ExAC rs767124692
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.05
- AlphaMissense 0.09
- MetaLR 0.10
- MetaSVM -0.96
- CADD 14.80
- PolyPhen-2 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- 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)