S28Y (p.Ser28Tyr) variant of DES (Desmin)
S28Y (p.Ser28Tyr) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S28Y (p.Ser28Tyr) variant details
- p.Ser28Tyr
- gnomAD 2-219418545-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.65
- CADD 24.40
- PolyPhen-2 0.82
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available