G397V (p.Gly397Val) variant of JAK3 (Tyrosine-protein kinase JAK3)
G397V (p.Gly397Val) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic 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 0.78 / 1. The record also includes population frequency data and structural context.
G397V (p.Gly397Val) variant details
- p.Gly397Val
- TOPMed rs1014042744
- Pathogenic
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.77
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available