S1118F (p.Ser1118Phe) variant of CFTR (P13569)
S1118F (p.Ser1118Phe) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
S1118F (p.Ser1118Phe) variant details
- p.Ser1118Phe
- rs146521846
- ClinGen CA327152
- ClinVar RCV000577360
- ClinVar RCV001781376
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.77
- ESM-1b 0.00
- AlphaMissense 0.91
- MetaLR 0.86
- MetaSVM 0.80
- CADD 26.80
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)