A55T (p.Ala55Thr) variant of DSG1 (Desmoglein-1)
A55T (p.Ala55Thr) in DSG1 (Desmoglein-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A55T (p.Ala55Thr) variant details
- p.Ala55Thr
- ExAC rs747673709
- TOPMed rs747673709
- gnomAD rs747673709
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.31
- MetaLR 0.36
- MetaSVM -0.36
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available