I18F (p.Ile18Phe) variant of DSP (Desmoplakin)
I18F (p.Ile18Phe) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
I18F (p.Ile18Phe) variant details
- p.Ile18Phe
- gnomAD 6-7541967-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.18
- MetaLR 0.09
- MetaSVM -0.99
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available