N22K (p.Asn22Lys) variant of DSG1 (Desmoglein-1)
N22K (p.Asn22Lys) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N22K (p.Asn22Lys) variant details
- p.Asn22Lys
- gnomAD 18-31326598-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.09
- MetaLR 0.16
- MetaSVM -0.92
- CADD 22.30
- PolyPhen-2 0.11
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available