A58T (p.Ala58Thr) variant of JAK3 (Tyrosine-protein kinase JAK3)
A58T (p.Ala58Thr) 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 0.71 / 1. The record also includes population frequency data and structural context.
A58T (p.Ala58Thr) variant details
- p.Ala58Thr
- rs2046340891
- ClinGen CA404774979
- ClinVar RCV001976801
- Ensembl rs2046340891
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.65
- CADD 27.40
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Variant of uncertain significance (in T(-)B(+)NK(-) SCID)
- UniProt: Uncertain significance (in T(-)B(+)NK(-) SCID)
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available