E73K (p.Glu73Lys) variant of MYH6 (Myosin-6)
E73K (p.Glu73Lys) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E73K (p.Glu73Lys) variant details
- p.Glu73Lys
- TOPMed rs1891766670
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.42
- CADD 23.70
- PolyPhen-2 0.51
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available