D46N (p.Asp46Asn) variant of AKT3 (Q9Y243)
D46N (p.Asp46Asn) 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.
D46N (p.Asp46Asn) variant details
- p.Asp46Asn
- TOPMed rs1685012940
- Uncertain significance
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Missense
- ClinVar: Uncertain significance (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- UniProt: Uncertain significance