Y28H (p.Tyr28His) variant of CFTR (P13569)
Y28H (p.Tyr28His) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
Y28H (p.Tyr28His) variant details
- p.Tyr28His
- TOPMed rs1012752433
- gnomAD rs1012752433
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.68
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.82
- MetaSVM 0.79
- CADD 26.20
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available