Q13R (p.Gln13Arg) variant of FANCA (Fanconi anemia group A protein)
Q13R (p.Gln13Arg) 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; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
Q13R (p.Gln13Arg) variant details
- p.Gln13Arg
- rs1264855885
- ClinGen CA397484527
- ClinVar RCV001323317
- ClinVar RCV002493689
- Uncertain significance
- Fanconi anemia; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0872
- REVEL 0.10
- CADD 0.07
- PolyPhen-2 0.02
- SIFT 0.53
- ClinVar: Uncertain significance (Fanconi anemia; Inborn genetic diseases; not provided)
- 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)