S23G (p.Ser23Gly) variant of DSG1 (Desmoglein-1)
S23G (p.Ser23Gly) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S23G (p.Ser23Gly) variant details
- p.Ser23Gly
- gnomAD rs1430240324
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.08
- MetaLR 0.13
- MetaSVM -1.05
- CADD 14.80
- PolyPhen-2 0.02
- SIFT 0.52
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available