E43D (p.Glu43Asp) variant of FANCC (Fanconi anemia group C protein)
E43D (p.Glu43Asp) 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 0.26 / 1. The record also includes population frequency data and structural context.
E43D (p.Glu43Asp) variant details
- p.Glu43Asp
- TOPMed rs1246204881
- gnomAD rs1246204881
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.28
- CADD 20.60
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available