T122I (p.Thr122Ile) variant of AKT3 (Q9Y243)
T122I (p.Thr122Ile) in AKT3 (Q9Y243) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
T122I (p.Thr122Ile) variant details
- p.Thr122Ile
- ESP rs367585326
- ExAC rs367585326
- TOPMed rs367585326
- gnomAD rs367585326
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- MetaLR 0.07
- MetaSVM -1.09
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)