E37G (p.Glu37Gly) variant of ACTN2 (Alpha-actinin-2)
E37G (p.Glu37Gly) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E37G (p.Glu37Gly) variant details
- p.Glu37Gly
- gnomAD 1-236686783-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.44
- CADD 32.00
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available