T80S (p.Thr80Ser) variant of AKT3 (Q9Y243)
T80S (p.Thr80Ser) in AKT3 (Q9Y243) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
T80S (p.Thr80Ser) variant details
- p.Thr80Ser
- rs1682656371
- Ensembl rs1682656371
- ClinGen CA345669256
- ClinVar RCV001228554
- Uncertain significance
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.90
- MetaLR 0.31
- MetaSVM -0.42
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.49
- ClinVar: Uncertain significance (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: MPPH Syndrome. (PMID 27854409)