I56M (p.Ile56Met) variant of TNNI3 (Troponin I, cardiac muscle)
I56M (p.Ile56Met) 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; not specified; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I56M (p.Ile56Met) variant details
- p.Ile56Met
- rs727503509
- ClinGen CA021335
- ClinVar RCV000152090
- ClinVar RCV001850073
- Uncertain significance
- Cardiovascular phenotype; not specified; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.29
- MetaLR 0.57
- MetaSVM -0.58
- CADD 4.95
- PolyPhen-2 0.06
- SIFT 0.11
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Hypertrophic cardiomyop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available