R775H (p.Arg775His) variant of JAK3 (Tyrosine-protein kinase JAK3)
R775H (p.Arg775His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R775H (p.Arg775His) variant details
- p.Arg775His
- rs1251299279
- ClinGen CA404767297
- cosmic curated COSV71685
- ClinVar RCV001824245
- Pathogenic
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.81
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available