E30A (p.Glu30Ala) variant of MYL3 (Myosin light chain 3)
E30A (p.Glu30Ala) in MYL3 (Myosin light chain 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E30A (p.Glu30Ala) variant details
- p.Glu30Ala
- gnomAD 3-46863302-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.30
- CADD 19.80
- PolyPhen-2 0.23
- SIFT 0.63
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available