D51Y (p.Asp51Tyr) variant of AIP (AH receptor-interacting protein)
D51Y (p.Asp51Tyr) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
D51Y (p.Asp51Tyr) variant details
- p.Asp51Tyr
- TOPMed rs1591042638
- gnomAD rs1591042638
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.93
- AlphaMissense 0.94
- MetaLR 0.87
- MetaSVM 0.98
- CADD 26.20
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available