R45Q (p.Arg45Gln) variant of DSG1 (Desmoglein-1)
R45Q (p.Arg45Gln) in DSG1 (Desmoglein-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R45Q (p.Arg45Gln) variant details
- p.Arg45Gln
- rs78287742
- ClinGen CA8925772
- ClinVar RCV001950288
- 1000Genomes rs78287742
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.17
- MetaLR 0.32
- MetaSVM -0.45
- CADD 26.00
- PolyPhen-2 0.63
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available