Q13R (p.Gln13Arg) variant of AKT3 (Q9Y243)
Q13R (p.Gln13Arg) 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 0.45 / 1. The record also includes published literature.
Q13R (p.Gln13Arg) variant details
- p.Gln13Arg
- rs1553462330
- Ensembl rs1553462330
- ClinGen CA345671785
- ClinVar RCV000623779
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- AlphaMissense 0.56
- MetaLR 0.28
- MetaSVM -0.65
- PolyPhen-2 0.42
- SIFT 0.34
- MutPred 0.60
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)