F35V (p.Phe35Val) variant of DES (Desmin)
F35V (p.Phe35Val) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
F35V (p.Phe35Val) variant details
- p.Phe35Val
- gnomAD 2-219418565-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.46
- CADD 22.60
- PolyPhen-2 0.10
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available