R20S (p.Arg20Ser) variant of FANCA (Fanconi anemia group A protein)
R20S (p.Arg20Ser) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R20S (p.Arg20Ser) variant details
- p.Arg20Ser
- rs1321607523
- ClinGen CA397484450
- ClinVar RCV002800736
- TOPMed rs1321607523
- Likely benign
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.29
- CADD 18.00
- PolyPhen-2 0.44
- SIFT 0.00
- ClinVar: Likely benign (Fanconi anemia)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)