K35R (p.Lys35Arg) variant of DSG1 (Desmoglein-1)
K35R (p.Lys35Arg) in DSG1 (Desmoglein-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
K35R (p.Lys35Arg) variant details
- p.Lys35Arg
- TOPMed rs1436775072
- gnomAD rs1436775072
- Uncertain significance
- Missense
- MetaLR 0.16
- MetaSVM -0.81
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available