R30T (p.Arg30Thr) variant of DSG1 (Desmoglein-1)
R30T (p.Arg30Thr) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R30T (p.Arg30Thr) variant details
- p.Arg30Thr
- TOPMed rs1014740513
- gnomAD rs1014740513
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.17
- MetaLR 0.17
- MetaSVM -0.90
- CADD 23.80
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available