S50A (p.Ser50Ala) variant of CFTR (P13569)
S50A (p.Ser50Ala) in CFTR (P13569) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CBAVD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes structural context.
S50A (p.Ser50Ala) variant details
- p.Ser50Ala
- Ensembl rs397508217
- Pathogenic
- in CBAVD
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.47
- MetaSVM -0.18
- SIFT 0.27
- EBI: Pathogenic (in CBAVD)
- UniProt: Pathogenic (in CBAVD)
- Structural context available