R95K (p.Arg95Lys) variant of TYK2 (P29597)
R95K (p.Arg95Lys) 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 0.33 / 1. The record also includes structural context.
R95K (p.Arg95Lys) variant details
- p.Arg95Lys
- rs1599355965
- ClinGen CA404020023
- ClinVar RCV000812810
- Ensembl rs1599355965
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- AlphaMissense 0.09
- MetaLR 0.14
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.25
- MutPred 0.36
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available