E18E (p.Glu18Glu) variant of ACTN2 (Alpha-actinin-2)
E18E (p.Glu18Glu) 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.
E18E (p.Glu18Glu) variant details
- p.Glu18Glu
- gnomAD 1-236686727-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 13.60
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available