N229S (p.Asn229Ser) variant of AKT3 (Q9Y243)
N229S (p.Asn229Ser) in AKT3 (Q9Y243) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
N229S (p.Asn229Ser) variant details
- p.Asn229Ser
- rs397514605
- ClinGen CA130581
- ClinVar RCV000033036
- ClinVar RCV000416600
- Pathogenic
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- AlphaMissense 0.17
- MetaLR 0.05
- MetaSVM -0.86
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.52
- ClinVar: Pathogenic (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Pathogenic (in MPPH2)
- UniProt: Pathogenic (in MPPH2)
- Structural context available
- Cited in: De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly… (PMID 22729224)
- Cited in: AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. (PMID 23745724)