P36L (p.Pro36Leu) variant of DES (Desmin)
P36L (p.Pro36Leu) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- gnomAD 2-219418569-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.28
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.68
- Population evidence available
- Structural context available
- Literature evidence available