S4L (p.Ser4Leu) variant of CFTR (P13569)
S4L (p.Ser4Leu) 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 population frequency data, published literature, and structural context.
S4L (p.Ser4Leu) variant details
- p.Ser4Leu
- rs397508173
- ClinGen CA4450596
- ClinVar RCV003165236
- ExAC rs397508173
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.61
- MetaLR 0.54
- MetaSVM -0.00
- CADD 25.10
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)