Y38C (p.Tyr38Cys) variant of CFTR (P13569)
Y38C (p.Tyr38Cys) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Y38C (p.Tyr38Cys) variant details
- p.Tyr38Cys
- rs758826243
- ClinGen CA4450639
- ClinVar RCV002451754
- ExAC rs758826243
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.86
- ESM-1b 0.51
- AlphaMissense 0.30
- MetaLR 0.81
- MetaSVM 0.79
- CADD 27.20
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- 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)