T144K (p.Thr144Lys) variant of AKT3 (Q9Y243)
T144K (p.Thr144Lys) in AKT3 (Q9Y243) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
T144K (p.Thr144Lys) variant details
- p.Thr144Lys
- rs2528154996
- ClinGen CA345669943
- ClinVar RCV002778685
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- MetaLR 0.07
- MetaSVM -1.05
- CADD 25.10
- PolyPhen-2 0.24
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- 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)