G61D (p.Gly61Asp) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
G61D (p.Gly61Asp) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar 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 0.59 / 1. The record also includes population frequency data and structural context.
G61D (p.Gly61Asp) variant details
- p.Gly61Asp
- Ensembl rs546345474
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.27
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available