S12S (p.Ser12Ser) variant of DES (Desmin)
S12S (p.Ser12Ser) 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.
S12S (p.Ser12Ser) variant details
- p.Ser12Ser
- gnomAD 2-219418498-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available