Y161C (p.Tyr161Cys) variant of CFTR (P13569)
Y161C (p.Tyr161Cys) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of CFTR-related disorder; 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.
Y161C (p.Tyr161Cys) variant details
- p.Tyr161Cys
- rs397508730
- ClinGen CA327523
- ClinVar RCV000577416
- gnomAD rs397508730
- Conflicting interpretations
- CFTR-related disorder; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.80
- MetaLR 0.88
- MetaSVM 0.94
- CADD 29.40
- ClinVar: Conflicting classifications of pathogenicity (CFTR-related disorder; Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)