H42R (p.His42Arg) variant of DSG1 (Desmoglein-1)
H42R (p.His42Arg) in DSG1 (Desmoglein-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
H42R (p.His42Arg) variant details
- p.His42Arg
- ExAC rs750452440
- TOPMed rs750452440
- gnomAD rs750452440
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.05
- MetaLR 0.14
- MetaSVM -0.99
- CADD 16.60
- PolyPhen-2 0.02
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available