D17D (p.Asp17Asp) variant of ACTN2 (Alpha-actinin-2)
D17D (p.Asp17Asp) in ACTN2 (Alpha-actinin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
D17D (p.Asp17Asp) variant details
- p.Asp17Asp
- gnomAD 1-236686724-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.184
- CADD 14.60
- Population evidence available
- Structural context available
- Literature evidence available