E54K (p.Glu54Lys) variant of CFTR (P13569)
E54K (p.Glu54Lys) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- gnomAD 7-117504359-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.81
- ESM-1b 0.46
- AlphaMissense 0.89
- MetaLR 0.91
- MetaSVM 0.98
- CADD 28.20
- Population evidence available
- Structural context available
- Literature evidence available