H74R (p.His74Arg) variant of DSG1 (Desmoglein-1)
H74R (p.His74Arg) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
H74R (p.His74Arg) variant details
- p.His74Arg
- ESP rs149439494
- ExAC rs149439494
- TOPMed rs149439494
- gnomAD rs149439494
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.11
- MetaLR 0.06
- MetaSVM -1.07
- CADD 16.30
- SIFT 0.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available