Y10* (p.Tyr10Ter) variant of ACTN2 (Alpha-actinin-2)
Y10* (p.Tyr10Ter) in ACTN2 (Alpha-actinin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Y10* (p.Tyr10Ter) variant details
- p.Tyr10Ter
- gnomAD 1-236686703-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available