S94N (p.Ser94Asn) variant of JAK3 (Tyrosine-protein kinase JAK3)
S94N (p.Ser94Asn) 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 0.33 / 1. The record also includes structural context.
S94N (p.Ser94Asn) variant details
- p.Ser94Asn
- rs2147699985
- ClinGen CA404774451
- ClinVar RCV003051774
- Ensembl rs2147699985
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- AlphaMissense 0.07
- MetaLR 0.19
- MetaSVM -0.88
- PolyPhen-2 0.01
- SIFT 0.11
- EVE 0.15
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available