I44T (p.Ile44Thr) variant of DSG1 (Desmoglein-1)
I44T (p.Ile44Thr) in DSG1 (Desmoglein-1) is a missense change. Clinical records from ClinVar 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 0.23 / 1. The record also includes population frequency data and structural context.
I44T (p.Ile44Thr) variant details
- p.Ile44Thr
- TOPMed rs1409998656
- gnomAD rs1409998656
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.20
- MetaLR 0.15
- MetaSVM -0.89
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available