T5A (p.Thr5Ala) variant of AKT3 (Q9Y243)
T5A (p.Thr5Ala) in AKT3 (Q9Y243) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
T5A (p.Thr5Ala) variant details
- p.Thr5Ala
- TOPMed rs1182345628
- gnomAD rs1182345628
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- MetaLR 0.12
- MetaSVM -0.96
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.92
- Most common in the African/African-American population (allele frequency 3e-05)