P99L (p.Pro99Leu) variant of CFTR (P13569)
P99L (p.Pro99Leu) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
P99L (p.Pro99Leu) variant details
- p.Pro99Leu
- rs397508467
- ClinGen CA326991
- ClinVar RCV000577122
- ClinVar RCV001009535
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.95
- CADD 26.30
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-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)