P37T (p.Pro37Thr) variant of JAK3 (Tyrosine-protein kinase JAK3)
P37T (p.Pro37Thr) 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 0.33 / 1. The record also includes population frequency data and structural context.
P37T (p.Pro37Thr) variant details
- p.Pro37Thr
- rs955716335
- ClinGen CA404775238
- ClinVar RCV003621944
- TOPMed rs955716335
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.15
- CADD 15.60
- PolyPhen-2 0.16
- SIFT 0.24
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available