E5Q (p.Glu5Gln) variant of ACTN2 (Alpha-actinin-2)
E5Q (p.Glu5Gln) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E5Q (p.Glu5Gln) variant details
- p.Glu5Gln
- gnomAD 1-236686686-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.33
- CADD 23.30
- PolyPhen-2 0.05
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available