N321K (p.Asn321Lys) variant of AKT3 (Q9Y243)
N321K (p.Asn321Lys) 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 0.38 / 1. The record also includes published literature and structural context.
N321K (p.Asn321Lys) variant details
- p.Asn321Lys
- rs1673171921
- Ensembl rs1673171921
- ClinGen CA345670432
- ClinVar RCV001289464
- Pathogenic
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- AlphaMissense 0.93
- MetaLR 0.16
- MetaSVM -0.81
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.57
- ClinVar: Pathogenic (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MPPH Syndrome. (PMID 27854409)