Y14* (p.Tyr14Ter) variant of DES (Desmin)
Y14* (p.Tyr14Ter) in DES (Desmin) 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 and structural context.
Y14* (p.Tyr14Ter) variant details
- p.Tyr14Ter
- Ensembl rs1954359860
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.848
- CADD 37.00
- Population evidence available
- Structural context available