Y19T (p.Tyr19Thr) variant of ACTN2 (Alpha-actinin-2)
Y19T (p.Tyr19Thr) in ACTN2 (Alpha-actinin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Y19T (p.Tyr19Thr) variant details
- p.Tyr19Thr
- gnomAD 1-236686727-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available