Y5* (p.Tyr5Ter) variant of DES (Desmin)
Y5* (p.Tyr5Ter) in DES (Desmin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
Y5* (p.Tyr5Ter) variant details
- p.Tyr5Ter
- rs1322222685
- ClinGen CA350682066
- ClinVar RCV003214084
- gnomAD rs1322222685
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available