R45K (p.Arg45Lys) variant of TNNI3 (Troponin I, cardiac muscle)
R45K (p.Arg45Lys) 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 Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
R45K (p.Arg45Lys) variant details
- p.Arg45Lys
- rs2147285293
- ClinGen CA407442396
- ClinVar RCV002008882
- ClinVar RCV004045241
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- AlphaMissense 0.80
- MetaLR 0.91
- MetaSVM 1.02
- PolyPhen-2 0.92
- SIFT 0.00
- EVE 0.46
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available