W76C (p.Trp76Cys) variant of FANCC (Fanconi anemia group C protein)
W76C (p.Trp76Cys) 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; not provided; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
W76C (p.Trp76Cys) variant details
- p.Trp76Cys
- rs876661132
- ClinGen CA10577381
- ClinVar RCV000221761
- ClinVar RCV001833231
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.28
- MetaLR 0.37
- MetaSVM -0.38
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.19
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Fanconi a)
- 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)