Q9H (p.Gln9His) variant of ACTN2 (Alpha-actinin-2)
Q9H (p.Gln9His) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q9H (p.Gln9His) variant details
- p.Gln9His
- gnomAD 1-236686700-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.25
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available