E40G (p.Glu40Gly) variant of AKT1 (P31749)
E40G (p.Glu40Gly) 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.
E40G (p.Glu40Gly) variant details
- p.Glu40Gly
- cosmic curated COSV10744
- Ensembl rs2140949199
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance