Q47Q (p.Gln47Gln) variant of DSG1 (Desmoglein-1)
Q47Q (p.Gln47Gln) in DSG1 (Desmoglein-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
Q47Q (p.Gln47Gln) variant details
- p.Gln47Gln
- rs2144087826
- gnomAD 18-31326930-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.26
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available