E54E (p.Glu54Glu) variant of CFTR (P13569)
E54E (p.Glu54Glu) in CFTR (P13569) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E54E (p.Glu54Glu) variant details
- p.Glu54Glu
- gnomAD 7-117504361-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 15.80
- Population evidence available
- Structural context available
- Literature evidence available