R124H (p.Arg124His) variant of TYK2 (P29597)
R124H (p.Arg124His) in TYK2 (P29597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R124H (p.Arg124His) variant details
- p.Arg124His
- TOPMed rs542503483
- gnomAD rs542503483
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.72
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available