S50Y (p.Ser50Tyr) variant of CFTR (P13569)
S50Y (p.Ser50Tyr) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
S50Y (p.Ser50Tyr) variant details
- p.Ser50Tyr
- rs397508220
- ClinGen CA326509
- ClinVar RCV000577356
- ClinVar RCV001194310
- Pathogenic
- in CBAVD
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.75
- MetaSVM 0.47
- CADD 25.90
- EBI: Pathogenic (in CBAVD)
- UniProt: Pathogenic (in CBAVD)
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available
- Cited in: Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of… (PMID 9067761)
- Cited in: Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene. (PMID 10066035)