R49S (p.Arg49Ser) variant of FANCA (Fanconi anemia group A protein)
R49S (p.Arg49Ser) 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R49S (p.Arg49Ser) variant details
- p.Arg49Ser
- rs929925295
- ClinGen CA397483365
- ClinVar RCV002923172
- TOPMed rs929925295
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.01
- CADD 14.20
- PolyPhen-2 0.05
- SIFT 0.10
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-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)