S43S (p.Ser43Ser) variant of DSG1 (Desmoglein-1)
S43S (p.Ser43Ser) in DSG1 (Desmoglein-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S43S (p.Ser43Ser) variant details
- p.Ser43Ser
- rs753543956
- gnomAD 18-31326918-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 5.64
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available