G37D (p.Gly37Asp) variant of DSG1 (Desmoglein-1)
G37D (p.Gly37Asp) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G37D (p.Gly37Asp) variant details
- p.Gly37Asp
- gnomAD 18-31326899-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.26
- MetaLR 0.20
- MetaSVM -0.84
- CADD 23.60
- PolyPhen-2 0.11
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available