R110W (p.Arg110Trp) variant of TYK2 (P29597)
R110W (p.Arg110Trp) 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 0.61 / 1. The record also includes population frequency data and structural context.
R110W (p.Arg110Trp) variant details
- p.Arg110Trp
- rs747918278
- ClinGen CA9193763
- cosmic curated COSV53389
- ClinVar RCV001122036
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.61
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available