C125R (p.Cys125Arg) variant of TYK2 (P29597)
C125R (p.Cys125Arg) 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 0.35 / 1. The record also includes structural context.
C125R (p.Cys125Arg) variant details
- p.Cys125Arg
- rs2145273513
- ClinGen CA404019103
- ClinVar RCV001994402
- Ensembl rs2145273513
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- AlphaMissense 0.15
- MetaLR 0.17
- MetaSVM -0.87
- PolyPhen-2 0.28
- SIFT 0.32
- MutPred 0.61
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available