D63H (p.Asp63His) variant of DSG1 (Desmoglein-1)
D63H (p.Asp63His) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
D63H (p.Asp63His) variant details
- p.Asp63His
- gnomAD 18-31326976-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.38
- MetaLR 0.35
- MetaSVM -0.38
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available