I82T (p.Ile82Thr) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
I82T (p.Ile82Thr) in MYBPC3 (Myosin-binding protein C, cardiac-type) 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 0.49 / 1. The record also includes population frequency data and structural context.
I82T (p.Ile82Thr) variant details
- p.Ile82Thr
- rs2142869399
- ClinGen CA380341612
- ClinVar RCV002015873
- Ensembl rs2142869399
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available