V599G (p.Val599Gly) variant of JAK3 (Tyrosine-protein kinase JAK3)
V599G (p.Val599Gly) 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 0.86 / 1. The record also includes structural context.
V599G (p.Val599Gly) variant details
- p.Val599Gly
- rs1568403355
- ClinGen CA404769029
- ClinVar RCV000766118
- ClinVar RCV003396332
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- AlphaMissense 0.86
- MetaLR 0.88
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available