L77H (p.Leu77His) variant of AKT3 (Q9Y243)
L77H (p.Leu77His) 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 0.44 / 1. The record also includes published literature.
L77H (p.Leu77His) variant details
- p.Leu77His
- rs2147921662
- Ensembl rs2147921662
- ClinGen CA345669276
- ClinVar RCV001775452
- Likely pathogenic
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- AlphaMissense 0.99
- MetaLR 0.34
- MetaSVM -0.30
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.51
- ClinVar: Likely pathogenic (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: MPPH Syndrome. (PMID 27854409)