K47N (p.Lys47Asn) variant of FANCC (Fanconi anemia group C protein)
K47N (p.Lys47Asn) 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 Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
K47N (p.Lys47Asn) variant details
- p.Lys47Asn
- rs2136100485
- ClinGen CA374340242
- ClinVar RCV002890746
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.07
- CADD 22.40
- PolyPhen-2 0.13
- SIFT 0.00
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)