D29D (p.Asp29Asp) variant of ACTN2 (Alpha-actinin-2)
D29D (p.Asp29Asp) in ACTN2 (Alpha-actinin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D29D (p.Asp29Asp) variant details
- p.Asp29Asp
- rs763227511
- gnomAD 1-236686760-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 15.10
- Most common in the Middle Eastern population (allele frequency 0.00019)
- Structural context available
- Literature evidence available