E33Q (p.Glu33Gln) variant of CFTR (P13569)
E33Q (p.Glu33Gln) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
E33Q (p.Glu33Gln) variant details
- p.Glu33Gln
- gnomAD rs1798379068
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.83
- MetaSVM 0.66
- SIFT 0.12
- Structural context available