D33D (p.Asp33Asp) variant of ACTN2 (Alpha-actinin-2)
D33D (p.Asp33Asp) in ACTN2 (Alpha-actinin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
D33D (p.Asp33Asp) variant details
- p.Asp33Asp
- gnomAD 1-236686772-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 14.70
- Population evidence available
- Structural context available
- Literature evidence available