G37S (p.Gly37Ser) variant of DSG1 (Desmoglein-1)
G37S (p.Gly37Ser) in DSG1 (Desmoglein-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G37S (p.Gly37Ser) variant details
- p.Gly37Ser
- rs1414136866
- gnomAD rs1414136866
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.29
- MetaLR 0.29
- MetaSVM -0.68
- CADD 26.80
- PolyPhen-2 0.77
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available