K36R (p.Lys36Arg) variant of TNNI3 (Troponin I, cardiac muscle)
K36R (p.Lys36Arg) 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 0.68 / 1. The record also includes structural context.
K36R (p.Lys36Arg) variant details
- p.Lys36Arg
- rs886039441
- ClinGen CA407442813
- ClinVar RCV002017123
- Ensembl rs886039441
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- AlphaMissense 0.45
- MetaLR 0.80
- MetaSVM 0.54
- PolyPhen-2 0.02
- SIFT 0.04
- MutPred 0.39
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance (in CMD1FF)
- UniProt: Uncertain significance (in CMD1FF)
- Structural context available