R402H (p.Arg402His) variant of JAK3 (Tyrosine-protein kinase JAK3)
R402H (p.Arg402His) 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; Severe combined im. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R402H (p.Arg402His) variant details
- p.Arg402His
- rs767428670
- ClinGen CA9301961
- NCI-TCGA Cosmic COSV7168
- cosmic curated COSV71685
- Likely pathogenic
- T-B+ severe combined immunodeficiency due to JAK3 deficiency; Severe combined im
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.50
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (T-B+ severe combined immunodeficiency due to JAK3 deficiency; Se)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available