W5C (p.Trp5Cys) variant of FANCA (Fanconi anemia group A protein)
W5C (p.Trp5Cys) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
W5C (p.Trp5Cys) variant details
- p.Trp5Cys
- rs2143731999
- ClinGen CA397484618
- ClinVar RCV001372794
- Ensembl rs2143731999
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.09
- CADD 14.30
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)