G7A (p.Gly7Ala) variant of ACTN2 (Alpha-actinin-2)
G7A (p.Gly7Ala) in ACTN2 (Alpha-actinin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G7A (p.Gly7Ala) variant details
- p.Gly7Ala
- gnomAD 1-236686688-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 26.80
- Population evidence available
- Structural context available
- Literature evidence available