A38V (p.Ala38Val) variant of DES (Desmin)
A38V (p.Ala38Val) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- gnomAD 2-219418575-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.19
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available