I52S (p.Ile52Ser) variant of DSG1 (Desmoglein-1)
I52S (p.Ile52Ser) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
I52S (p.Ile52Ser) variant details
- p.Ile52Ser
- gnomAD 18-31326944-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.52
- MetaLR 0.41
- MetaSVM -0.11
- CADD 28.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available