E16D (p.Glu16Asp) variant of ACTN2 (Alpha-actinin-2)
E16D (p.Glu16Asp) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
E16D (p.Glu16Asp) variant details
- p.Glu16Asp
- gnomAD 1-236686721-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0614
- REVEL 0.04
- CADD 4.59
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available