D15D (p.Asp15Asp) variant of ACTN2 (Alpha-actinin-2)
D15D (p.Asp15Asp) in ACTN2 (Alpha-actinin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
D15D (p.Asp15Asp) variant details
- p.Asp15Asp
- gnomAD 1-236686718-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.35
- Most common in the Non-Finnish European population (allele frequency 5.5e-06)
- Structural context available
- Literature evidence available