I128M (p.Ile128Met) variant of AKT3 (Q9Y243)
I128M (p.Ile128Met) in AKT3 (Q9Y243) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and published literature.
I128M (p.Ile128Met) variant details
- p.Ile128Met
- rs374658863
- 1000Genomes rs374658863
- ESP rs374658863
- TOPMed rs374658863
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- MetaLR 0.05
- MetaSVM -1.10
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)