R20S (p.Arg20Ser) variant of TNNI3 (Troponin I, cardiac muscle)
R20S (p.Arg20Ser) 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.
R20S (p.Arg20Ser) variant details
- p.Arg20Ser
- rs2515503781
- ClinGen CA407443100
- ClinVar RCV003587997
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available