K53E (p.Lys53Glu) variant of DSG1 (Desmoglein-1)
K53E (p.Lys53Glu) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K53E (p.Lys53Glu) variant details
- p.Lys53Glu
- gnomAD 18-31326946-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.25
- MetaLR 0.31
- MetaSVM -0.44
- CADD 26.20
- PolyPhen-2 0.83
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available