R22H (p.Arg22His) variant of TNNI3 (Troponin I, cardiac muscle)
R22H (p.Arg22His) 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 not specified; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R22H (p.Arg22His) variant details
- p.Arg22His
- rs397516360
- ClinGen CA022115
- ClinVar RCV000036310
- ClinVar RCV000808735
- Uncertain significance
- not specified; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.34
- MetaLR 0.56
- MetaSVM 0.09
- CADD 23.50
- PolyPhen-2 0.94
- SIFT 0.07
- ClinVar: Uncertain significance (not specified; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available