K47R (p.Lys47Arg) variant of FANCC (Fanconi anemia group C protein)
K47R (p.Lys47Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
K47R (p.Lys47Arg) variant details
- p.Lys47Arg
- rs1588353368
- ClinGen CA374340245
- ClinVar RCV001011434
- ClinVar RCV001832333
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.03
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-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)