Q28K (p.Gln28Lys) variant of DSG1 (Desmoglein-1)
Q28K (p.Gln28Lys) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q28K (p.Gln28Lys) variant details
- p.Gln28Lys
- gnomAD 18-31326614-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.16
- MetaLR 0.13
- MetaSVM -1.01
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available