S13C (p.Ser13Cys) variant of CFTR (P13569)
S13C (p.Ser13Cys) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
S13C (p.Ser13Cys) variant details
- p.Ser13Cys
- gnomAD rs397508635
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.96
- MetaSVM 1.08
- CADD 27.50
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available