R52Q (p.Arg52Gln) variant of FANCA (Fanconi anemia group A protein)
R52Q (p.Arg52Gln) 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 0.41 / 1. The record also includes published literature and structural context.
R52Q (p.Arg52Gln) variant details
- p.Arg52Gln
- rs2143723686
- ClinGen CA397483327
- cosmic curated COSV66881
- ClinVar RCV003062962
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.10
- MetaLR 0.13
- MetaSVM -1.00
- PolyPhen-2 0.97
- SIFT 0.36
- EVE 0.79
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)