S57P (p.Ser57Pro) variant of FANCC (Fanconi anemia group C protein)
S57P (p.Ser57Pro) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S57P (p.Ser57Pro) variant details
- p.Ser57Pro
- rs1356447246
- ClinGen CA374340163
- ClinVar RCV002406294
- gnomAD rs1356447246
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.08
- AlphaMissense 0.10
- MetaLR 0.12
- MetaSVM -0.96
- CADD 20.40
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)