W22* (p.Trp22Ter) variant of FANCA (Fanconi anemia group A protein)
W22* (p.Trp22Ter) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
W22* (p.Trp22Ter) variant details
- p.Trp22Ter
- rs761341952
- ClinGen CA8253262
- cosmic curated COSV66880
- ClinVar RCV000665314
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.686
- CADD 43.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- 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)