E57K (p.Glu57Lys) variant of MYH11 (Myosin-11)
E57K (p.Glu57Lys) in MYH11 (Myosin-11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E57K (p.Glu57Lys) variant details
- p.Glu57Lys
- Ensembl rs2043951177
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.57
- CADD 24.60
- PolyPhen-2 0.85
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available