T48S (p.Thr48Ser) variant of AIP (AH receptor-interacting protein)
T48S (p.Thr48Ser) in AIP (AH receptor-interacting protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
T48S (p.Thr48Ser) variant details
- p.Thr48Ser
- gnomAD 11-67487049-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.20
- MetaLR 0.55
- MetaSVM -0.33
- CADD 16.90
- PolyPhen-2 0.02
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available