K72E (p.Lys72Glu) variant of DSG1 (Desmoglein-1)
K72E (p.Lys72Glu) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
K72E (p.Lys72Glu) variant details
- p.Lys72Glu
- TOPMed rs1249896949
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.37
- MetaLR 0.26
- MetaSVM -0.56
- CADD 28.40
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available