L53G (p.Leu53Gly) variant of TNNI3 (Troponin I, cardiac muscle)
L53G (p.Leu53Gly) 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 Hypertrophic cardiomyopathy. The record also includes structural context.
L53G (p.Leu53Gly) variant details
- p.Leu53Gly
- rs2515501775
- ClinGen CA2740096977
- ClinVar RCV003837696
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available