F15I (p.Phe15Ile) variant of DSG1 (Desmoglein-1)
F15I (p.Phe15Ile) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
F15I (p.Phe15Ile) variant details
- p.Phe15Ile
- gnomAD 18-31318343-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.07
- MetaLR 0.16
- MetaSVM -0.94
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available