S31I (p.Ser31Ile) variant of DES (Desmin)
S31I (p.Ser31Ile) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S31I (p.Ser31Ile) variant details
- p.Ser31Ile
- gnomAD 2-219418554-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.30
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available