D15E (p.Asp15Glu) variant of ACTN2 (Alpha-actinin-2)
D15E (p.Asp15Glu) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
D15E (p.Asp15Glu) variant details
- p.Asp15Glu
- ExAC rs771424965
- TOPMed rs771424965
- gnomAD rs771424965
- Missense
- Variant Prioritization Score for Impact Estimate 0.0904
- REVEL 0.08
- CADD 6.35
- PolyPhen-2 0.00
- SIFT 0.38
- Population evidence available
- Structural context available