Q81K (p.Gln81Lys) variant of DSG1 (Desmoglein-1)
Q81K (p.Gln81Lys) in DSG1 (Desmoglein-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and structural context.
Q81K (p.Gln81Lys) variant details
- p.Gln81Lys
- Ensembl rs1598699465
- Pathogenic
- Missense
- MetaLR 0.16
- MetaSVM -0.99
- SIFT 0.05
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available