I56V (p.Ile56Val) variant of TNNI3 (Troponin I, cardiac muscle)
I56V (p.Ile56Val) 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 0.44 / 1. The record also includes population frequency data and structural context.
I56V (p.Ile56Val) variant details
- p.Ile56Val
- rs765219322
- ClinGen CA050564
- ClinVar RCV001981121
- ExAC rs765219322
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- AlphaMissense 0.10
- MetaLR 0.58
- MetaSVM -0.25
- PolyPhen-2 0.00
- SIFT 0.75
- EVE 0.13
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available