Q3E (p.Gln3Glu) variant of FANCC (Fanconi anemia group C protein)
Q3E (p.Gln3Glu) 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 complementation group C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
Q3E (p.Gln3Glu) variant details
- p.Gln3Glu
- TOPMed rs1046396741
- gnomAD rs1046396741
- Uncertain significance
- Fanconi anemia complementation group C
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.03
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (Fanconi anemia complementation group C)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available