R21H (p.Arg21His) variant of TNNI3 (Troponin I, cardiac muscle)
R21H (p.Arg21His) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar 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.
R21H (p.Arg21His) variant details
- p.Arg21His
- NCI-TCGA Cosmic COSV6127
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.42
- MetaLR 0.83
- MetaSVM 0.86
- CADD 24.20
- PolyPhen-2 0.94
- SIFT 0.09
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available