Q9S (p.Gln9Ser) variant of ACTN2 (Alpha-actinin-2)
Q9S (p.Gln9Ser) in ACTN2 (Alpha-actinin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Q9S (p.Gln9Ser) variant details
- p.Gln9Ser
- gnomAD 1-236686696-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available