D47E (p.Asp47Glu) variant of CFTR (P13569)
D47E (p.Asp47Glu) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
D47E (p.Asp47Glu) variant details
- p.Asp47Glu
- gnomAD 7-117504340-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.68
- MetaLR 0.78
- MetaSVM 0.39
- CADD 20.60
- Population evidence available
- Structural context available
- Literature evidence available