T122N (p.Thr122Asn) variant of AKT3 (Q9Y243)
T122N (p.Thr122Asn) 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 0.56 / 1. The record also includes population frequency data.
T122N (p.Thr122Asn) variant details
- p.Thr122Asn
- ESP rs367585326
- ExAC rs367585326
- TOPMed rs367585326
- gnomAD rs367585326
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- MetaLR 0.07
- MetaSVM -1.09
- CADD 20.70
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)