Q9E (p.Gln9Glu) variant of ACTN2 (Alpha-actinin-2)
Q9E (p.Gln9Glu) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q9E (p.Gln9Glu) variant details
- p.Gln9Glu
- gnomAD 1-236686698-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.26
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.61
- Population evidence available
- Structural context available
- Literature evidence available