G37R (p.Gly37Arg) variant of DSG1 (Desmoglein-1)
G37R (p.Gly37Arg) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G37R (p.Gly37Arg) variant details
- p.Gly37Arg
- gnomAD 18-31326898-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.26
- MetaLR 0.24
- MetaSVM -0.78
- CADD 25.60
- PolyPhen-2 0.45
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available