D3E (p.Asp3Glu) variant of TNNI3 (Troponin I, cardiac muscle)
D3E (p.Asp3Glu) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
D3E (p.Asp3Glu) variant details
- p.Asp3Glu
- rs2085744143
- ClinGen CA407443515
- ClinVar RCV003297327
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available