E49E (p.Glu49Glu) variant of MYL3 (Myosin light chain 3)
E49E (p.Glu49Glu) in MYL3 (Myosin light chain 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E49E (p.Glu49Glu) variant details
- p.Glu49Glu
- rs1004231349
- gnomAD 3-46860970-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 9.97
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available