S2A (p.Ser2Ala) variant of FANCA (Fanconi anemia group A protein)
S2A (p.Ser2Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S2A (p.Ser2Ala) variant details
- p.Ser2Ala
- rs2041144813
- ClinGen CA397484660
- ClinVar RCV001925306
- TOPMed rs2041144813
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.15
- CADD 2.52
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)