S57A (p.Ser57Ala) variant of FANCC (Fanconi anemia group C protein)
S57A (p.Ser57Ala) 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; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
S57A (p.Ser57Ala) variant details
- p.Ser57Ala
- rs1356447246
- ClinGen CA374340162
- ClinVar RCV002598343
- ClinVar RCV004617055
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- AlphaMissense 0.10
- MetaLR 0.12
- MetaSVM -0.96
- PolyPhen-2 0.01
- SIFT 0.30
- EVE 0.39
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)