R103H (p.Arg103His) variant of JAK3 (Tyrosine-protein kinase JAK3)
R103H (p.Arg103His) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.71 / 1. The record also includes population frequency data and structural context.
R103H (p.Arg103His) variant details
- p.Arg103His
- rs774202259
- ClinGen CA236018
- cosmic curated COSV10594
- ClinVar RCV000171281
- Pathogenic
- T-B+ severe combined immunodeficiency due to JAK3 deficiency; Severe combined im
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.68
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (T-B+ severe combined immunodeficiency due to JAK3 deficiency; Se)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available