I52T (p.Ile52Thr) variant of DSG1 (Desmoglein-1)
I52T (p.Ile52Thr) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I52T (p.Ile52Thr) variant details
- p.Ile52Thr
- gnomAD rs1211990162
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.36
- MetaLR 0.30
- MetaSVM -0.46
- CADD 24.40
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available