I73F (p.Ile73Phe) variant of DSG1 (Desmoglein-1)
I73F (p.Ile73Phe) 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.
I73F (p.Ile73Phe) variant details
- p.Ile73Phe
- gnomAD rs1380198566
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.40
- MetaLR 0.36
- MetaSVM -0.18
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available