E193K (p.Glu193Lys) variant of CFTR (P13569)
E193K (p.Glu193Lys) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; drug response in the context of ivacaftor response - Efficacy; Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
E193K (p.Glu193Lys) variant details
- p.Glu193Lys
- rs397508759
- ClinGen CA327578
- ClinVar RCV000577109
- ClinVar RCV000660831
- Pathogenic; drug response
- ivacaftor response - Efficacy; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.68
- MetaLR 0.81
- MetaSVM 0.72
- CADD 33.00
- ClinVar: Pathogenic; drug response (ivacaftor response - Efficacy; Cystic fibrosis)
- EBI: Pathogenic (in CBAVD and CF)
- UniProt: Pathogenic (in CBAVD and CF)
- Population evidence available
- Structural context available
- Cited in: Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis. (PMID 11242048)
- Cited in: Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67… (PMID 7529962)