E54K (p.Glu54Lys) variant of FANCC (Fanconi anemia group C protein)
E54K (p.Glu54Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- rs1564794487
- ClinGen CA374340196
- NCI-TCGA Cosmic COSV5665
- ClinVar RCV000706384
- Uncertain significance
- Fanconi anemia; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.18
- CADD 23.50
- ClinVar: Uncertain significance (Fanconi anemia; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)