P25R (p.Pro25Arg) variant of DES (Desmin)
P25R (p.Pro25Arg) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P25R (p.Pro25Arg) variant details
- p.Pro25Arg
- gnomAD 2-219418536-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.21
- CADD 15.70
- PolyPhen-2 0.18
- SIFT 0.47
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available