Q22H (p.Gln22His) variant of ACTN2 (Alpha-actinin-2)
Q22H (p.Gln22His) 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.
Q22H (p.Gln22His) variant details
- p.Gln22His
- gnomAD 1-236686739-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.26
- CADD 25.60
- PolyPhen-2 0.95
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available