P205L (p.Pro205Leu) variant of CFTR (P13569)
P205L (p.Pro205Leu) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Conge. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P205L (p.Pro205Leu) variant details
- p.Pro205Leu
- ExAC rs397508769
- gnomAD rs397508769
- Conflicting interpretations
- Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Conge
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.81
- ESM-1b 0.00
- AlphaMissense 0.58
- MetaLR 0.87
- MetaSVM 0.88
- CADD 24.10
- ClinVar: Conflicting classifications of pathogenicity (Bronchiectasis with or without elevated sweat chloride 1; Cystic)
- EBI: Likely pathogenic (in CF)
- UniProt: Likely pathogenic (in CF)
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available