S42Y (p.Ser42Tyr) variant of JAK3 (Tyrosine-protein kinase JAK3)
S42Y (p.Ser42Tyr) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of T-B+ severe combined immunodeficiency due to JAK3 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
S42Y (p.Ser42Tyr) variant details
- p.Ser42Tyr
- rs2094246939
- ClinGen CA404775180
- ClinVar RCV001041840
- Ensembl rs2094246939
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- AlphaMissense 0.15
- MetaLR 0.37
- MetaSVM -0.36
- PolyPhen-2 0.08
- SIFT 0.08
- EVE 0.26
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available