T34S (p.Thr34Ser) variant of DSG1 (Desmoglein-1)
T34S (p.Thr34Ser) in DSG1 (Desmoglein-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
T34S (p.Thr34Ser) variant details
- p.Thr34Ser
- TOPMed rs2071688880
- gnomAD rs2071688880
- Uncertain significance
- Missense
- MetaLR 0.06
- MetaSVM -1.04
- SIFT 0.77
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available