I73T (p.Ile73Thr) variant of DSG1 (Desmoglein-1)
I73T (p.Ile73Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
I73T (p.Ile73Thr) variant details
- p.Ile73Thr
- rs138930324
- ClinGen CA8925795
- ClinVar RCV003110451
- ESP rs138930324
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.50
- MetaLR 0.35
- MetaSVM -0.13
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available