H74Q (p.His74Gln) variant of DSG1 (Desmoglein-1)
H74Q (p.His74Gln) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
H74Q (p.His74Gln) variant details
- p.His74Gln
- gnomAD 18-31328194-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.12
- MetaLR 0.10
- MetaSVM -1.01
- CADD 10.50
- PolyPhen-2 0.41
- SIFT 0.06
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available