H199Y (p.His199Tyr) variant of CFTR (P13569)
H199Y (p.His199Tyr) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
H199Y (p.His199Tyr) variant details
- p.His199Tyr
- rs121908802
- ClinGen CA328129
- ClinVar RCV000056399
- ClinVar RCV000755925
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.85
- MetaSVM 0.86
- CADD 25.80
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients. (PMID 7525450)
- Cited in: Cystic Fibrosis. (PMID 20301428)