P67L (p.Pro67Leu) variant of CFTR (P13569)
P67L (p.Pro67Leu) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; drug response in the context of Cystic fibrosis; ivacaftor response - Efficacy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P67L (p.Pro67Leu) variant details
- p.Pro67Leu
- rs368505753
- ClinGen CA345310
- ClinVar RCV000056357
- ClinVar RCV000660821
- Pathogenic; drug response
- Cystic fibrosis; ivacaftor response - Efficacy
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.93
- ESM-1b 0.69
- AlphaMissense 0.65
- MetaLR 0.92
- MetaSVM 1.06
- CADD 25.90
- ClinVar: Pathogenic; drug response (Cystic fibrosis; ivacaftor response - Efficacy)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available
- Cited in: P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population. (PMID 9507391)
- Cited in: Cystic Fibrosis. (PMID 20301428)