L1077P (p.Leu1077Pro) variant of CFTR (P13569)
L1077P (p.Leu1077Pro) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L1077P (p.Leu1077Pro) variant details
- p.Leu1077Pro
- rs139304906
- ClinGen CA328111
- ClinVar RCV000056377
- ClinVar RCV001004303
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.84
- MetaSVM 0.87
- CADD 29.40
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Cited in: Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a… (PMID 1284534)
- Cited in: Cystic Fibrosis. (PMID 20301428)