R26P (p.Arg26Pro) variant of DSG1 (Desmoglein-1)
R26P (p.Arg26Pro) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R26P (p.Arg26Pro) variant details
- p.Arg26Pro
- gnomAD 18-31326609-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.32
- MetaLR 0.12
- MetaSVM -1.01
- CADD 23.40
- PolyPhen-2 0.33
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available