S28P (p.Ser28Pro) variant of DES (Desmin)
S28P (p.Ser28Pro) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S28P (p.Ser28Pro) variant details
- p.Ser28Pro
- gnomAD 2-219418544-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.58
- CADD 25.10
- PolyPhen-2 0.68
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available