K53S (p.Lys53Ser) variant of DSG1 (Desmoglein-1)
K53S (p.Lys53Ser) in DSG1 (Desmoglein-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K53S (p.Lys53Ser) variant details
- p.Lys53Ser
- rs2071689378
- gnomAD 18-31326945-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 28.00
- Population evidence available
- Structural context available
- Literature evidence available