S28S (p.Ser28Ser) variant of DES (Desmin)
S28S (p.Ser28Ser) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S28S (p.Ser28Ser) variant details
- p.Ser28Ser
- rs1177199218
- gnomAD 2-219418546-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.317
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available