E68K (p.Glu68Lys) variant of MYL3 (Myosin light chain 3)
E68K (p.Glu68Lys) in MYL3 (Myosin light chain 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
E68K (p.Glu68Lys) variant details
- p.Glu68Lys
- ExAC rs755516554
- gnomAD rs755516554
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.59
- CADD 25.10
- PolyPhen-2 0.27
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available