I128V (p.Ile128Val) variant of AKT3 (Q9Y243)
I128V (p.Ile128Val) in AKT3 (Q9Y243) is a missense change. Clinical records from ClinVar 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 0.35 / 1. The record also includes population frequency data.
I128V (p.Ile128Val) variant details
- p.Ile128Val
- gnomAD rs984642349
- Uncertain significance
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- MetaLR 0.05
- MetaSVM -1.03
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)