F35I (p.Phe35Ile) variant of DES (Desmin)
F35I (p.Phe35Ile) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
F35I (p.Phe35Ile) variant details
- p.Phe35Ile
- 1000Genomes rs2125165836
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.36
- CADD 22.70
- PolyPhen-2 0.10
- SIFT 0.39
- Population evidence available
- Structural context available