D322Y (p.Asp322Tyr) variant of AKT3 (Q9Y243)
D322Y (p.Asp322Tyr) in AKT3 (Q9Y243) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
D322Y (p.Asp322Tyr) variant details
- p.Asp322Tyr
- rs1064795602
- Ensembl rs1064795602
- ClinGen CA345670430
- ClinVar RCV001376775
- Likely pathogenic
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- AlphaMissense 0.65
- MetaLR 0.22
- MetaSVM -0.57
- PolyPhen-2 0.88
- SIFT 0.08
- MutPred 0.49
- ClinVar: Likely pathogenic (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MPPH Syndrome. (PMID 27854409)