R16L (p.Arg16Leu) variant of DES (Desmin)
R16L (p.Arg16Leu) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R16L (p.Arg16Leu) variant details
- p.Arg16Leu
- gnomAD 2-219418509-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available