P22Q (p.Pro22Gln) variant of DES (Desmin)
P22Q (p.Pro22Gln) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P22Q (p.Pro22Gln) variant details
- p.Pro22Gln
- gnomAD 2-219418527-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.24
- CADD 18.20
- PolyPhen-2 0.18
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available