T48I (p.Thr48Ile) variant of AIP (AH receptor-interacting protein)
T48I (p.Thr48Ile) in AIP (AH receptor-interacting protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
T48I (p.Thr48Ile) variant details
- p.Thr48Ile
- gnomAD 11-67487049-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.36
- MetaLR 0.74
- MetaSVM 0.14
- CADD 18.90
- PolyPhen-2 0.36
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available