Y38N (p.Tyr38Asn) variant of CFTR (P13569)
Y38N (p.Tyr38Asn) in CFTR (P13569) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
Y38N (p.Tyr38Asn) variant details
- p.Tyr38Asn
- ESP rs373112861
- ExAC rs373112861
- TOPMed rs373112861
- gnomAD rs373112861
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.87
- ESM-1b 0.92
- AlphaMissense 0.62
- MetaLR 0.85
- MetaSVM 0.94
- CADD 26.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available