W5* (p.Trp5Ter) variant of FANCA (Fanconi anemia group A protein)
W5* (p.Trp5Ter) in FANCA (Fanconi anemia group A protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
W5* (p.Trp5Ter) variant details
- p.Trp5Ter
- rs2041143697
- ClinGen CA397484625
- ClinVar RCV001256437
- Ensembl rs2041143697
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)