F24L (p.Phe24Leu) variant of DES (Desmin)
F24L (p.Phe24Leu) in DES (Desmin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
F24L (p.Phe24Leu) variant details
- p.Phe24Leu
- gnomAD 2-219418523-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available