S4L (p.Ser4Leu) variant of FANCA (Fanconi anemia group A protein)
S4L (p.Ser4Leu) 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; not provided; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S4L (p.Ser4Leu) variant details
- p.Ser4Leu
- rs1484087361
- ClinGen CA397484635
- ClinVar RCV003092069
- ClinVar RCV005021557
- Uncertain significance
- Fanconi anemia complementation group A; not provided; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.12
- CADD 7.05
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Fanconi anemia complementation group A; not provided; Fanconi an)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)