D32H (p.Asp32His) variant of MYH6 (Myosin-6)
D32H (p.Asp32His) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D32H (p.Asp32His) variant details
- p.Asp32His
- rs750776536
- ClinGen CA7116266
- ClinVar RCV002374141
- ClinVar RCV005097346
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.88
- CADD 26.30
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00087)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)