L26I (p.Leu26Ile) variant of DES (Desmin)
L26I (p.Leu26Ile) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L26I (p.Leu26Ile) variant details
- p.Leu26Ile
- gnomAD 2-219418538-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.13
- CADD 14.10
- PolyPhen-2 0.07
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available