S6* (p.Ser6Ter) variant of DES (Desmin)
S6* (p.Ser6Ter) 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 0.85 / 1. The record also includes population frequency data and structural context.
S6* (p.Ser6Ter) variant details
- p.Ser6Ter
- gnomAD rs1214936508
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.851
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available