S2C (p.Ser2Cys) variant of FANCA (Fanconi anemia group A protein)
S2C (p.Ser2Cys) 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; Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S2C (p.Ser2Cys) variant details
- p.Ser2Cys
- rs928016876
- ClinGen CA286612860
- ClinVar RCV002257111
- ClinVar RCV005008497
- Uncertain significance
- Fanconi anemia; Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.30
- CADD 21.50
- PolyPhen-2 0.21
- SIFT 0.01
- ClinVar: Uncertain significance (Fanconi anemia; Fanconi anemia complementation group A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)