E23E (p.Glu23Glu) variant of ACTN2 (Alpha-actinin-2)
E23E (p.Glu23Glu) in ACTN2 (Alpha-actinin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E23E (p.Glu23Glu) variant details
- p.Glu23Glu
- gnomAD 1-236686742-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 13.10
- Population evidence available
- Structural context available
- Literature evidence available