F25L (p.Phe25Leu) variant of DSG1 (Desmoglein-1)
F25L (p.Phe25Leu) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
F25L (p.Phe25Leu) variant details
- p.Phe25Leu
- TOPMed rs1402008404
- gnomAD rs1402008404
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.26
- MetaLR 0.09
- MetaSVM -1.08
- CADD 21.70
- PolyPhen-2 0.20
- SIFT 0.28
- Population evidence available
- Structural context available