W6R (p.Trp6Arg) variant of TYK2 (P29597)
W6R (p.Trp6Arg) 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 0.09 / 1. The record also includes population frequency data and structural context.
W6R (p.Trp6Arg) variant details
- p.Trp6Arg
- rs533026972
- ClinGen CA9193903
- ClinVar RCV001933686
- 1000Genomes rs533026972
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.0948
- REVEL 0.10
- CADD 2.72
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available