A4V (p.Ala4Val) variant of DES (Desmin)
A4V (p.Ala4Val) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- gnomAD 2-219418473-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.22
- CADD 21.80
- PolyPhen-2 0.04
- SIFT 0.71
- Population evidence available
- Structural context available
- Literature evidence available