V47D (p.Val47Asp) variant of MYH7 (Myosin-7)
V47D (p.Val47Asp) in MYH7 (Myosin-7) 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 0.80 / 1. The record also includes published literature and structural context.
V47D (p.Val47Asp) variant details
- p.Val47Asp
- rs1595091435
- ClinGen CA389053770
- ClinVar RCV004015297
- ClinVar RCV006564643
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.73
- MetaSVM 0.49
- CADD 26.90
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)