T714M (p.Thr714Met) variant of JAK3 (Tyrosine-protein kinase JAK3)
T714M (p.Thr714Met) 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 Severe combined immunodeficiency disease; T-B+ severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
T714M (p.Thr714Met) variant details
- p.Thr714Met
- rs140655992
- ClinGen CA9301675
- cosmic curated COSV71685
- ClinVar RCV003324318
- Pathogenic
- Severe combined immunodeficiency disease; T-B+ severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.78
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Severe combined immunodeficiency disease; T-B+ severe combined i)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)
- Cited in: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for… (PMID 23619274)