S2F (p.Ser2Phe) variant of FANCA (Fanconi anemia group A protein)
S2F (p.Ser2Phe) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S2F (p.Ser2Phe) variant details
- p.Ser2Phe
- rs928016876
- ClinGen CA286612857
- ClinVar RCV001035136
- ClinVar RCV005021341
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.30
- CADD 21.90
- PolyPhen-2 0.17
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)