E22K (p.Glu22Lys) variant of MYH6 (Myosin-6)
E22K (p.Glu22Lys) 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; not provided. The record also includes published literature and structural context.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- rs2138622800
- ClinGen CA389032141
- cosmic curated COSV10742
- ClinVar RCV001806575
- Uncertain significance
- Hypertrophic cardiomyopathy 14; not provided
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 14; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)