S18I (p.Ser18Ile) variant of CFTR (P13569)
S18I (p.Ser18Ile) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
S18I (p.Ser18Ile) variant details
- p.Ser18Ile
- rs1584764661
- ClinGen CA368981413
- ClinVar RCV002347264
- Ensembl rs1584764661
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.81
- MetaSVM 0.74
- PolyPhen-2 0.38
- SIFT 0.03
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)
- Cited in: Standards and guidelines for CFTR mutation testing. (PMID 12394352)