I41M (p.Ile41Met) variant of TNNI3 (Troponin I, cardiac muscle)
I41M (p.Ile41Met) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
I41M (p.Ile41Met) variant details
- p.Ile41Met
- rs1311862702
- ClinGen CA407442444
- ClinVar RCV002004966
- ClinVar RCV003136366
- Uncertain significance
- Hypertrophic cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- AlphaMissense 0.53
- MetaLR 0.74
- MetaSVM 0.22
- PolyPhen-2 0.98
- SIFT 0.69
- EVE 0.06
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available