E51E (p.Glu51Glu) variant of CFTR (P13569)
E51E (p.Glu51Glu) in CFTR (P13569) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E51E (p.Glu51Glu) variant details
- p.Glu51Glu
- gnomAD 7-117504352-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 10.70
- Population evidence available
- Structural context available
- Literature evidence available