F15L (p.Phe15Leu) variant of DSG1 (Desmoglein-1)
F15L (p.Phe15Leu) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
F15L (p.Phe15Leu) variant details
- p.Phe15Leu
- gnomAD 18-31318343-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.02
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available