P1021L (p.Pro1021Leu) variant of CFTR (P13569)
P1021L (p.Pro1021Leu) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bronchiectasis with or without elevated sweat chloride 1; Hereditary pancreatiti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
P1021L (p.Pro1021Leu) variant details
- p.Pro1021Leu
- rs1554392023
- ClinGen CA368990667
- ClinVar RCV000536207
- ClinVar RCV005034082
- Pathogenic/Likely pathogenic
- Bronchiectasis with or without elevated sweat chloride 1; Hereditary pancreatiti
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- ESM-1b 0.00
- AlphaMissense 0.43
- MetaLR 0.87
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bronchiectasis with or without elevated sweat chloride 1; Heredi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)