P37R (p.Pro37Arg) variant of JAK3 (Tyrosine-protein kinase JAK3)
P37R (p.Pro37Arg) 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 0.34 / 1. The record also includes population frequency data and structural context.
P37R (p.Pro37Arg) variant details
- p.Pro37Arg
- rs200960683
- ClinGen CA9302263
- ClinVar RCV001304055
- ExAC rs200960683
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.20
- CADD 22.60
- PolyPhen-2 0.56
- SIFT 0.08
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available