Q43R (p.Gln43Arg) variant of AKT1 (P31749)
Q43R (p.Gln43Arg) in AKT1 (P31749) 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 0.30 / 1. The record also includes published literature.
Q43R (p.Gln43Arg) variant details
- p.Gln43Arg
- rs2140949078
- ClinGen CA391221548
- ClinVar RCV004521308
- Ensembl rs2140949078
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- AlphaMissense 0.09
- MetaLR 0.07
- MetaSVM -1.05
- PolyPhen-2 0.16
- SIFT 0.02
- MutPred 0.48
- 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)