I49V (p.Ile49Val) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
I49V (p.Ile49Val) 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 Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I49V (p.Ile49Val) variant details
- p.Ile49Val
- rs760058908
- ClinGen CA380341838
- ClinVar RCV002394771
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 20.60
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available