M1I (p.Met1Ile) variant of TNNI3 (Troponin I, cardiac muscle)
M1I (p.Met1Ile) 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 0.65 / 1. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1489475656
- ClinGen CA407443564
- ClinVar RCV001935570
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- MetaLR 0.80
- MetaSVM 0.36
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 1.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available