P25Q (p.Pro25Gln) variant of DES (Desmin)
P25Q (p.Pro25Gln) 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 and structural context.
P25Q (p.Pro25Gln) variant details
- p.Pro25Gln
- ExAC rs745708897
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.19
- CADD 16.50
- PolyPhen-2 0.33
- SIFT 0.30
- Population evidence available
- Structural context available