S13Y (p.Ser13Tyr) variant of CFTR (P13569)
S13Y (p.Ser13Tyr) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
S13Y (p.Ser13Tyr) variant details
- p.Ser13Tyr
- gnomAD rs397508635
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.96
- MetaSVM 1.08
- CADD 27.10
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available