R45G (p.Arg45Gly) variant of DSG1 (Desmoglein-1)
R45G (p.Arg45Gly) in DSG1 (Desmoglein-1) is a missense 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.
R45G (p.Arg45Gly) variant details
- p.Arg45Gly
- gnomAD 18-31326922-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.36
- MetaLR 0.29
- MetaSVM -0.53
- CADD 23.00
- PolyPhen-2 0.48
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available