S4N (p.Ser4Asn) variant of DSG1 (Desmoglein-1)
S4N (p.Ser4Asn) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
S4N (p.Ser4Asn) variant details
- p.Ser4Asn
- ExAC rs767924353
- gnomAD rs767924353
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -1.05
- CADD 2.08
- PolyPhen-2 0.01
- SIFT 0.38
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available