R403H (p.Arg403His) variant of JAK3 (Tyrosine-protein kinase JAK3)
R403H (p.Arg403His) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.31 / 1. The record also includes population frequency data and structural context.
R403H (p.Arg403His) variant details
- p.Arg403His
- rs1599876167
- ClinGen CA404770617
- NCI-TCGA Cosmic COSV7168
- cosmic curated COSV71685
- Likely pathogenic
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.07
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.18
- ClinVar: Likely pathogenic (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available