I82V (p.Ile82Val) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
I82V (p.Ile82Val) 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; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
I82V (p.Ile82Val) variant details
- p.Ile82Val
- rs1470947124
- ClinGen CA380341617
- ClinVar RCV001804477
- TOPMed rs1470947124
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)