P36Q (p.Pro36Gln) variant of DES (Desmin)
P36Q (p.Pro36Gln) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P36Q (p.Pro36Gln) variant details
- p.Pro36Gln
- gnomAD 2-219418569-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.34
- CADD 22.60
- PolyPhen-2 0.65
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available