L927P (p.Leu927Pro) variant of CFTR (P13569)
L927P (p.Leu927Pro) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L927P (p.Leu927Pro) variant details
- p.Leu927Pro
- rs397508435
- ClinGen CA328107
- ClinVar RCV000056371
- ClinVar RCV001826648
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 29.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SAN population (allele frequency 1)
- 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)