V19I (p.Val19Ile) variant of DSG1 (Desmoglein-1)
V19I (p.Val19Ile) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
V19I (p.Val19Ile) variant details
- p.Val19Ile
- gnomAD 18-31326587-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.05
- MetaLR 0.10
- MetaSVM -1.07
- CADD 13.00
- PolyPhen-2 0.07
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available