E24G (p.Glu24Gly) variant of ACTN2 (Alpha-actinin-2)
E24G (p.Glu24Gly) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E24G (p.Glu24Gly) variant details
- p.Glu24Gly
- cosmic curated COSV10085
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.27
- CADD 26.80
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available