K99E (p.Lys99Glu) variant of TBX5 (T-box transcription factor TBX5)
K99E (p.Lys99Glu) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
K99E (p.Lys99Glu) variant details
- p.Lys99Glu
- rs1565941529
- ClinGen CA386862733
- ClinVar RCV002467256
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available