P5L (p.Pro5Leu) variant of CFTR (P13569)
P5L (p.Pro5Leu) in CFTR (P13569) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- rs193922501
- ClinGen CA325691
- ClinVar RCV000029477
- ClinVar RCV000727666
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.89
- ESM-1b 0.92
- AlphaMissense 0.75
- MetaLR 0.91
- MetaSVM 1.01
- CADD 26.90
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)