A34P (p.Ala34Pro) variant of AIP (AH receptor-interacting protein)
A34P (p.Ala34Pro) in AIP (AH receptor-interacting protein) 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 0.83 / 1. The record also includes population frequency data and structural context.
A34P (p.Ala34Pro) variant details
- p.Ala34Pro
- ExAC rs760261382
- TOPMed rs760261382
- gnomAD rs760261382
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.89
- AlphaMissense 0.32
- MetaLR 0.77
- MetaSVM 0.61
- CADD 32.00
- PolyPhen-2 0.97
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available