Y150C (p.Tyr150Cys) variant of AKT3 (Q9Y243)
Y150C (p.Tyr150Cys) in AKT3 (Q9Y243) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
Y150C (p.Tyr150Cys) variant details
- p.Tyr150Cys
- ExAC rs756197145
- TOPMed rs756197145
- gnomAD rs756197145
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- MetaLR 0.08
- MetaSVM -1.04
- CADD 25.30
- PolyPhen-2 0.09
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available