S4* (p.Ser4Ter) variant of FANCA (Fanconi anemia group A protein)
S4* (p.Ser4Ter) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S4* (p.Ser4Ter) variant details
- p.Ser4Ter
- rs1484087361
- ClinGen CA397484637
- ClinVar RCV000666866
- ClinVar RCV001387348
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)