N80N (p.Asn80Asn) variant of DSG1 (Desmoglein-1)
N80N (p.Asn80Asn) in DSG1 (Desmoglein-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
N80N (p.Asn80Asn) variant details
- p.Asn80Asn
- gnomAD 18-31328212-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.341
- CADD 8.35
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available