L165S (p.Leu165Ser) variant of CFTR (P13569)
L165S (p.Leu165Ser) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L165S (p.Leu165Ser) variant details
- p.Leu165Ser
- rs397508736
- ClinGen CA327535
- ClinVar RCV000576939
- ClinVar RCV001826690
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.87
- MetaSVM 0.88
- CADD 27.80
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)