G46R (p.Gly46Arg) variant of JAK3 (Tyrosine-protein kinase JAK3)
G46R (p.Gly46Arg) 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 0.63 / 1. The record also includes population frequency data and structural context.
G46R (p.Gly46Arg) variant details
- p.Gly46Arg
- rs778988303
- ClinGen CA9302259
- ClinVar RCV001038232
- ExAC rs778988303
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.49
- CADD 32.00
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available