Q29* (p.Gln29Ter) variant of AIP (AH receptor-interacting protein)
Q29* (p.Gln29Ter) in AIP (AH receptor-interacting protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
Q29* (p.Gln29Ter) variant details
- p.Gln29Ter
- rs969013352
- ClinGen CA381545870
- ClinVar RCV001231929
- gnomAD rs969013352
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.423
- AlphaMissense 0.11
- MetaLR 0.31
- MetaSVM -0.87
- SIFT 0.47
- MutPred 0.23
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available