E51G (p.Glu51Gly) variant of CFTR (P13569)
E51G (p.Glu51Gly) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E51G (p.Glu51Gly) variant details
- p.Glu51Gly
- gnomAD 7-117504351-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.71
- ESM-1b 0.00
- AlphaMissense 0.47
- MetaLR 0.77
- MetaSVM 0.60
- CADD 28.40
- Population evidence available
- Structural context available
- Literature evidence available