E5E (p.Glu5Glu) variant of ACTN2 (Alpha-actinin-2)
E5E (p.Glu5Glu) in ACTN2 (Alpha-actinin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E5E (p.Glu5Glu) variant details
- p.Glu5Glu
- gnomAD 1-236686688-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 14.00
- Population evidence available
- Structural context available
- Literature evidence available