P29T (p.Pro29Thr) variant of DES (Desmin)
P29T (p.Pro29Thr) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P29T (p.Pro29Thr) variant details
- p.Pro29Thr
- gnomAD 2-219418547-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.32
- CADD 20.90
- PolyPhen-2 0.03
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available