Q81H (p.Gln81His) variant of DSG1 (Desmoglein-1)
Q81H (p.Gln81His) in DSG1 (Desmoglein-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Q81H (p.Gln81His) variant details
- p.Gln81His
- rs74368609
- ClinGen CA8925800
- ClinVar RCV000969694
- 1000Genomes rs74368609
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.34
- MetaLR 0.25
- MetaSVM -0.75
- CADD 22.40
- PolyPhen-2 0.94
- SIFT 0.12
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available