P33L (p.Pro33Leu) variant of DES (Desmin)
P33L (p.Pro33Leu) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- gnomAD 2-219418560-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.35
- CADD 23.00
- PolyPhen-2 0.14
- SIFT 0.16
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available