Q9* (p.Gln9Ter) variant of ACTN2 (Alpha-actinin-2)
Q9* (p.Gln9Ter) in ACTN2 (Alpha-actinin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
Q9* (p.Gln9Ter) variant details
- p.Gln9Ter
- gnomAD rs1665880953
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.842
- CADD 38.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available