K47T (p.Lys47Thr) variant of FANCC (Fanconi anemia group C protein)
K47T (p.Lys47Thr) 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; Hereditary cancer-predisposing syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K47T (p.Lys47Thr) variant details
- p.Lys47Thr
- rs1588353368
- ClinGen CA374340246
- ClinVar RCV001960384
- ClinVar RCV002246607
- Uncertain significance
- Fanconi anemia; Hereditary cancer-predisposing syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.10
- CADD 22.30
- PolyPhen-2 0.13
- SIFT 0.00
- ClinVar: Uncertain significance (Fanconi anemia; Hereditary cancer-predisposing syndrome; not spe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)