S23S (p.Ser23Ser) variant of DSG1 (Desmoglein-1)
S23S (p.Ser23Ser) in DSG1 (Desmoglein-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S23S (p.Ser23Ser) variant details
- p.Ser23Ser
- gnomAD 18-31326601-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.561
- CADD 9.70
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available