E43K (p.Glu43Lys) variant of FANCC (Fanconi anemia group C protein)
E43K (p.Glu43Lys) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Fanconi anemia complementation group A; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E43K (p.Glu43Lys) variant details
- p.Glu43Lys
- rs374836770
- ClinGen CA299206
- cosmic curated COSV56665
- ClinVar RCV000160495
- Conflicting interpretations
- Fanconi anemia complementation group A; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.07
- CADD 20.20
- PolyPhen-2 0.10
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (Fanconi anemia complementation group A; Hereditary cancer-predis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.11)
- 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)