L1335P (p.Leu1335Pro) variant of CFTR (P13569)
L1335P (p.Leu1335Pro) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L1335P (p.Leu1335Pro) variant details
- p.Leu1335Pro
- rs397508658
- ClinGen CA327378
- ClinVar RCV000047055
- ClinVar RCV002228162
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.90
- MetaSVM 1.06
- CADD 29.00
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)