H64R (p.His64Arg) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
H64R (p.His64Arg) 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 0.53 / 1. The record also includes population frequency data and structural context.
H64R (p.His64Arg) variant details
- p.His64Arg
- rs1250637243
- ClinGen CA380341746
- ClinVar RCV004008248
- gnomAD rs1250637243
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.44
- ESM-1b 1.00
- AlphaMissense 0.70
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available