P25L (p.Pro25Leu) variant of DES (Desmin)
P25L (p.Pro25Leu) 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.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- gnomAD 2-219418536-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.16
- CADD 15.30
- PolyPhen-2 0.07
- SIFT 0.66
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available