D33G (p.Asp33Gly) variant of ACTN2 (Alpha-actinin-2)
D33G (p.Asp33Gly) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
D33G (p.Asp33Gly) variant details
- p.Asp33Gly
- gnomAD 1-236686771-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.47
- CADD 26.00
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available