V34L (p.Val34Leu) variant of DES (Desmin)
V34L (p.Val34Leu) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
V34L (p.Val34Leu) variant details
- p.Val34Leu
- gnomAD 2-219418562-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.12
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.68
- Population evidence available
- Structural context available
- Literature evidence available