E5V (p.Glu5Val) variant of ACTN2 (Alpha-actinin-2)
E5V (p.Glu5Val) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E5V (p.Glu5Val) variant details
- p.Glu5Val
- gnomAD 1-236686687-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.18
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available