E94K (p.Glu94Lys) variant of AKT3 (Q9Y243)
E94K (p.Glu94Lys) in AKT3 (Q9Y243) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
E94K (p.Glu94Lys) variant details
- p.Glu94Lys
- ExAC rs749228367
- gnomAD rs749228367
- Uncertain significance
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- MetaLR 0.66
- MetaSVM 0.54
- CADD 26.80
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Uncertain significance (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)