E20Q (p.Glu20Gln) variant of MYH6 (Myosin-6)
E20Q (p.Glu20Gln) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar 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 0.52 / 1. The record also includes population frequency data and structural context.
E20Q (p.Glu20Gln) variant details
- p.Glu20Gln
- Ensembl rs987272353
- Uncertain significance
- Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.37
- CADD 23.20
- PolyPhen-2 0.13
- SIFT 0.04
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 14)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available