S50P (p.Ser50Pro) variant of CFTR (P13569)
S50P (p.Ser50Pro) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
S50P (p.Ser50Pro) variant details
- p.Ser50Pro
- rs397508217
- ClinGen CA326503
- ClinVar RCV000046319
- Ensembl rs397508217
- Pathogenic
- in CBAVD
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.82
- MetaSVM 0.81
- CADD 24.90
- EBI: Pathogenic (in CBAVD)
- UniProt: Pathogenic (in CBAVD)
- Population evidence available
- Structural context available
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)
- Cited in: Standards and guidelines for CFTR mutation testing. (PMID 12394352)