G62S (p.Gly62Ser) variant of JAK3 (Tyrosine-protein kinase JAK3)
G62S (p.Gly62Ser) 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 0.43 / 1. The record also includes population frequency data and structural context.
G62S (p.Gly62Ser) variant details
- p.Gly62Ser
- rs199602590
- ClinGen CA9302254
- cosmic curated COSV71686
- ClinVar RCV001224740
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.29
- CADD 26.70
- PolyPhen-2 0.83
- SIFT 0.21
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available