T137I (p.Thr137Ile) variant of AKT3 (Q9Y243)
T137I (p.Thr137Ile) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
T137I (p.Thr137Ile) variant details
- p.Thr137Ile
- rs202064755
- ClinGen CA1484128
- cosmic curated COSV10584
- ClinVar RCV001996506
- Uncertain significance
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- MetaLR 0.07
- MetaSVM -1.09
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: MPPH Syndrome. (PMID 27854409)