K35I (p.Lys35Ile) variant of DSG1 (Desmoglein-1)
K35I (p.Lys35Ile) 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 0.46 / 1. The record also includes population frequency data and structural context.
K35I (p.Lys35Ile) variant details
- p.Lys35Ile
- rs1436775072
- ClinGen CA402127566
- ClinVar RCV003729312
- TOPMed rs1436775072
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.38
- MetaLR 0.27
- MetaSVM -0.52
- CADD 27.80
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available