F54F (p.Phe54Phe) variant of DSG1 (Desmoglein-1)
F54F (p.Phe54Phe) in DSG1 (Desmoglein-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
F54F (p.Phe54Phe) variant details
- p.Phe54Phe
- rs778383508
- gnomAD 18-31326951-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0894
- CADD 1.24
- Population evidence available
- Structural context available
- Literature evidence available