S8S (p.Ser8Ser) variant of DES (Desmin)
S8S (p.Ser8Ser) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S8S (p.Ser8Ser) variant details
- p.Ser8Ser
- gnomAD 2-219418486-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 15.80
- Population evidence available
- Structural context available
- Literature evidence available