V17M (p.Val17Met) variant of DSG1 (Desmoglein-1)
V17M (p.Val17Met) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V17M (p.Val17Met) variant details
- p.Val17Met
- ExAC rs773601716
- gnomAD rs773601716
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.19
- MetaLR 0.31
- MetaSVM -0.48
- CADD 29.20
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available