D33E (p.Asp33Glu) variant of ACTN2 (Alpha-actinin-2)
D33E (p.Asp33Glu) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D33E (p.Asp33Glu) variant details
- p.Asp33Glu
- gnomAD 1-236686772-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.16
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available