K180E (p.Lys180Glu) variant of AKT3 (Q9Y243)
K180E (p.Lys180Glu) 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 0.43 / 1. The record also includes published literature and structural context.
K180E (p.Lys180Glu) variant details
- p.Lys180Glu
- rs2147812145
- Ensembl rs2147812145
- ClinGen CA345669693
- ClinVar RCV001775235
- Pathogenic
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- AlphaMissense 0.99
- MetaLR 0.29
- MetaSVM -0.41
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.58
- ClinVar: Pathogenic (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MPPH Syndrome. (PMID 27854409)