S9L (p.Ser9Leu) variant of FANCA (Fanconi anemia group A protein)
S9L (p.Ser9Leu) 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 Fanconi anemia complementation group A; Fanconi anemia. The record also includes published literature and structural context.
S9L (p.Ser9Leu) variant details
- p.Ser9Leu
- rs2143731757
- ClinGen CA2573152816
- ClinVar RCV002254864
- ClinVar RCV003094180
- Uncertain significance
- Fanconi anemia complementation group A; Fanconi anemia
- Missense
- ClinVar: Uncertain significance (Fanconi anemia complementation group A; Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)