Q13R (p.Gln13Arg) variant of FANCC (Fanconi anemia group C protein)
Q13R (p.Gln13Arg) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group C. 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.
Q13R (p.Gln13Arg) variant details
- p.Gln13Arg
- rs199968672
- ClinGen CA5137845
- ClinVar RCV000362819
- ClinVar RCV002356504
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group C
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.23
- CADD 23.30
- PolyPhen-2 0.66
- SIFT 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- 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)