Q5H (p.Gln5His) variant of MYH6 (Myosin-6)
Q5H (p.Gln5His) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q5H (p.Gln5His) variant details
- p.Gln5His
- rs1891818033
- ClinGen CA389032252
- ClinVar RCV002801071
- gnomAD rs1891818033
- Uncertain significance
- Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.31
- CADD 17.70
- PolyPhen-2 0.10
- SIFT 0.02
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)