L26P (p.Leu26Pro) variant of DES (Desmin)
L26P (p.Leu26Pro) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L26P (p.Leu26Pro) variant details
- p.Leu26Pro
- gnomAD 2-219418539-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.19
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available