S32S (p.Ser32Ser) variant of DES (Desmin)
S32S (p.Ser32Ser) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S32S (p.Ser32Ser) variant details
- p.Ser32Ser
- gnomAD 2-219418558-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 12.90
- Population evidence available
- Structural context available
- Literature evidence available