W26* (p.Trp26Ter) variant of ACTN2 (Alpha-actinin-2)
W26* (p.Trp26Ter) in ACTN2 (Alpha-actinin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W26* (p.Trp26Ter) variant details
- p.Trp26Ter
- gnomAD 1-236686750-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 40.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available