S9F (p.Ser9Phe) variant of FANCA (Fanconi anemia group A protein)
S9F (p.Ser9Phe) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- rs752776388
- ClinGen CA8253272
- ClinVar RCV001247242
- ClinVar RCV003387442
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.15
- CADD 14.70
- PolyPhen-2 0.09
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 4.1e-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)