E16G (p.Glu16Gly) variant of ACTN2 (Alpha-actinin-2)
E16G (p.Glu16Gly) 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.
E16G (p.Glu16Gly) variant details
- p.Glu16Gly
- gnomAD 1-236686720-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.10
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available