R103C (p.Arg103Cys) variant of JAK3 (Tyrosine-protein kinase JAK3)
R103C (p.Arg103Cys) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Severe combined immunodeficiency disease; T-B+ severe combined imm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R103C (p.Arg103Cys) variant details
- p.Arg103Cys
- rs761583890
- ClinGen CA9302208
- NCI-TCGA Cosmic COSV7168
- cosmic curated COSV71686
- Pathogenic/Likely pathogenic
- not provided; Severe combined immunodeficiency disease; T-B+ severe combined imm
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.74
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Severe combined immunodeficiency disease; T-B+ sev)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available