E64K (p.Glu64Lys) variant of MYH6 (Myosin-6)
E64K (p.Glu64Lys) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hypertrophic cardiomyopathy 14; Sick sinus syndrome 3, susceptibil. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E64K (p.Glu64Lys) variant details
- p.Glu64Lys
- rs750818212
- ClinGen CA7116252
- ClinVar RCV001201962
- ClinVar RCV002269343
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy 14; Sick sinus syndrome 3, susceptibil
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.41
- CADD 21.10
- PolyPhen-2 0.37
- SIFT 0.31
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy 14; Sick sinus syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)