E54D (p.Glu54Asp) variant of CFTR (P13569)
E54D (p.Glu54Asp) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E54D (p.Glu54Asp) variant details
- p.Glu54Asp
- gnomAD 7-117504361-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.73
- ESM-1b 0.30
- AlphaMissense 0.92
- MetaLR 0.87
- MetaSVM 0.80
- CADD 25.10
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available
- Literature evidence available