R110Q (p.Arg110Gln) variant of TYK2 (P29597)
R110Q (p.Arg110Gln) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 35. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R110Q (p.Arg110Gln) variant details
- p.Arg110Gln
- rs56090991
- ClinGen CA9193762
- ClinVar RCV001122035
- ExAC rs56090991
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.38
- CADD 24.10
- PolyPhen-2 0.61
- SIFT 0.07
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available