S12G (p.Ser12Gly) variant of TYK2 (P29597)
S12G (p.Ser12Gly) 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 0.39 / 1. The record also includes structural context.
S12G (p.Ser12Gly) variant details
- p.Ser12Gly
- rs2042247201
- ClinGen CA404023187
- ClinVar RCV001047343
- Ensembl rs2042247201
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- AlphaMissense 0.06
- MetaLR 0.34
- MetaSVM -0.74
- PolyPhen-2 0.00
- SIFT 0.11
- MutPred 0.18
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available