I18I (p.Ile18Ile) variant of DSP (Desmoplakin)
I18I (p.Ile18Ile) in DSP (Desmoplakin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
I18I (p.Ile18Ile) variant details
- p.Ile18Ile
- rs1757992278
- gnomAD 6-7541969-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 14.20
- Population evidence available
- Structural context available
- Literature evidence available