F456S (p.Phe456Ser) variant of FANCA (Fanconi anemia group A protein)
F456S (p.Phe456Ser) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fanconi anemia complementation group A. The record also includes published literature and structural context.
F456S (p.Phe456Ser) variant details
- p.Phe456Ser
- rs2544250338
- ClinGen CA397460218
- ClinVar RCV003232890
- Likely pathogenic
- Fanconi anemia complementation group A
- Missense
- ClinVar: Likely pathogenic (Fanconi anemia complementation group A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)