R21S (p.Arg21Ser) variant of TNNI3 (Troponin I, cardiac muscle)
R21S (p.Arg21Ser) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R21S (p.Arg21Ser) variant details
- p.Arg21Ser
- rs267607128
- ClinGen CA407443093
- ClinVar RCV000809848
- Ensembl rs267607128
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.47
- MetaLR 0.74
- MetaSVM 0.66
- CADD 23.50
- PolyPhen-2 0.50
- SIFT 0.09
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available