L15P (p.Leu15Pro) variant of CFTR (P13569)
L15P (p.Leu15Pro) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
L15P (p.Leu15Pro) variant details
- p.Leu15Pro
- rs1562876459
- ClinGen CA368981338
- ClinVar RCV000785636
- ClinVar RCV001000710
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.79
- MetaSVM 0.73
- PolyPhen-2 0.57
- SIFT 0.00
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)