T122S (p.Thr122Ser) variant of AKT3 (Q9Y243)
T122S (p.Thr122Ser) 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 0.54 / 1. The record also includes population frequency data and published literature.
T122S (p.Thr122Ser) variant details
- p.Thr122Ser
- rs367585326
- ESP rs367585326
- ExAC rs367585326
- TOPMed rs367585326
- Uncertain significance
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- MetaLR 0.06
- MetaSVM -1.05
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: MPPH Syndrome. (PMID 27854409)