E30D (p.Glu30Asp) variant of MYL3 (Myosin light chain 3)
E30D (p.Glu30Asp) in MYL3 (Myosin light chain 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E30D (p.Glu30Asp) variant details
- p.Glu30Asp
- TOPMed rs1702010923
- gnomAD rs1702010923
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.23
- CADD 13.10
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available