V17L (p.Val17Leu) variant of DSG1 (Desmoglein-1)
V17L (p.Val17Leu) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V17L (p.Val17Leu) variant details
- p.Val17Leu
- gnomAD 18-31326581-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.13
- MetaLR 0.18
- MetaSVM -0.87
- CADD 24.80
- PolyPhen-2 0.41
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available