W22S (p.Trp22Ser) variant of FANCA (Fanconi anemia group A protein)
W22S (p.Trp22Ser) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
W22S (p.Trp22Ser) variant details
- p.Trp22Ser
- rs761341952
- ClinGen CA397484429
- ClinVar RCV001879636
- ExAC rs761341952
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.21
- CADD 23.80
- PolyPhen-2 0.92
- SIFT 0.02
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)