Y448C (p.Tyr448Cys) variant of FANCA (Fanconi anemia group A protein)
Y448C (p.Tyr448Cys) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
Y448C (p.Tyr448Cys) variant details
- p.Tyr448Cys
- rs769203048
- ClinGen CA8252399
- ClinVar RCV002254010
- ExAC rs769203048
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.84
- CADD 27.40
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)