T5I (p.Thr5Ile) variant of AKT3 (Q9Y243)
T5I (p.Thr5Ile) in AKT3 (Q9Y243) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
T5I (p.Thr5Ile) variant details
- p.Thr5Ile
- ExAC rs758329804
- TOPMed rs758329804
- gnomAD rs758329804
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- MetaLR 0.20
- MetaSVM -0.78
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 0.00013)