H139P (p.His139Pro) variant of AKT3 (Q9Y243)
H139P (p.His139Pro) in AKT3 (Q9Y243) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
H139P (p.His139Pro) variant details
- p.His139Pro
- TOPMed rs1680774872
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- MetaLR 0.05
- MetaSVM -1.08
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available