K46I (p.Lys46Ile) variant of TNNI3 (Troponin I, cardiac muscle)
K46I (p.Lys46Ile) 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 0.78 / 1. The record also includes structural context.
K46I (p.Lys46Ile) variant details
- p.Lys46Ile
- rs2147285289
- ClinGen CA407442374
- ClinVar RCV001367875
- Ensembl rs2147285289
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- AlphaMissense 0.97
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 0.84
- SIFT 0.00
- EVE 0.29
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available