K20N (p.Lys20Asn) variant of AKT1 (P31749)
K20N (p.Lys20Asn) 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.
K20N (p.Lys20Asn) variant details
- p.Lys20Asn
- gnomAD rs1367344673
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance