D322N (p.Asp322Asn) variant of AKT3 (Q9Y243)
D322N (p.Asp322Asn) in AKT3 (Q9Y243) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; 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.
D322N (p.Asp322Asn) variant details
- p.Asp322Asn
- rs1064795602
- Ensembl rs1064795602
- ClinGen CA16617120
- ClinVar RCV000487269
- Pathogenic/Likely pathogenic
- not provided; 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: Pathogenic/Likely pathogenic (not provided; Megalencephaly-polymicrogyria-polydactyly-hydrocep)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MPPH Syndrome. (PMID 27854409)