K161Q (p.Lys161Gln) variant of AKT3 (Q9Y243)
K161Q (p.Lys161Gln) in AKT3 (Q9Y243) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1.
K161Q (p.Lys161Gln) variant details
- p.Lys161Gln
- rs1085307712
- Ensembl rs1085307712
- ClinGen CA345669825
- ClinVar RCV000490118
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- AlphaMissense 0.99
- MetaLR 0.40
- MetaSVM -0.22
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.72
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic