S945L (p.Ser945Leu) variant of CFTR (P13569)
S945L (p.Ser945Leu) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
S945L (p.Ser945Leu) variant details
- p.Ser945Leu
- rs397508442
- ClinGen CA345314
- ClinVar RCV000056372
- ClinVar RCV000660828
- Pathogenic; drug response
- ivacaftor response - Efficacy; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic; drug response (ivacaftor response - Efficacy; Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)