Y49S (p.Tyr49Ser) variant of FANCC (Fanconi anemia group C protein)
Y49S (p.Tyr49Ser) 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 0.46 / 1. The record also includes published literature and structural context.
Y49S (p.Tyr49Ser) variant details
- p.Tyr49Ser
- rs761845692
- ClinGen CA374340229
- ClinVar RCV004520515
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- AlphaMissense 0.22
- MetaLR 0.31
- MetaSVM -0.41
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)