R124* (p.Arg124Ter) variant of TYK2 (P29597)
R124* (p.Arg124Ter) in TYK2 (P29597) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R124* (p.Arg124Ter) variant details
- p.Arg124Ter
- rs752249209
- gnomAD 19-10350912-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.242
- CADD 6.40
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available