S32L (p.Ser32Leu) variant of DES (Desmin)
S32L (p.Ser32Leu) 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.
S32L (p.Ser32Leu) variant details
- p.Ser32Leu
- gnomAD 2-219418557-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.62
- CADD 27.40
- PolyPhen-2 0.65
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available