N80T (p.Asn80Thr) variant of DSG1 (Desmoglein-1)
N80T (p.Asn80Thr) 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 0.27 / 1. The record also includes population frequency data and structural context.
N80T (p.Asn80Thr) variant details
- p.Asn80Thr
- TOPMed rs1008682996
- gnomAD rs1008682996
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.18
- MetaLR 0.16
- MetaSVM -0.90
- CADD 21.60
- PolyPhen-2 0.16
- SIFT 0.39
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available