F15C (p.Phe15Cys) variant of DSG1 (Desmoglein-1)
F15C (p.Phe15Cys) 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.
F15C (p.Phe15Cys) variant details
- p.Phe15Cys
- gnomAD 18-31318344-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.06
- MetaLR 0.14
- MetaSVM -0.94
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available