R15L (p.Arg15Leu) variant of DES (Desmin)
R15L (p.Arg15Leu) 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.
R15L (p.Arg15Leu) variant details
- p.Arg15Leu
- gnomAD 2-219418506-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.58
- CADD 24.50
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available