T34I (p.Thr34Ile) variant of DSG1 (Desmoglein-1)
T34I (p.Thr34Ile) in DSG1 (Desmoglein-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T34I (p.Thr34Ile) variant details
- p.Thr34Ile
- rs2071688880
- ClinGen CA402127553
- ClinVar RCV002617745
- TOPMed rs2071688880
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.06
- MetaLR 0.09
- MetaSVM -1.02
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available