E30K (p.Glu30Lys) variant of MYL3 (Myosin light chain 3)
E30K (p.Glu30Lys) in MYL3 (Myosin light chain 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- gnomAD 3-46863303-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.36
- CADD 20.10
- PolyPhen-2 0.23
- SIFT 0.72
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available