D144V (p.Asp144Val) variant of JAK3 (Tyrosine-protein kinase JAK3)
D144V (p.Asp144Val) 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; JAK3-related disor. 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.
D144V (p.Asp144Val) variant details
- p.Asp144Val
- rs1486760100
- ClinGen CA404773421
- ClinVar RCV000498524
- ClinVar RCV003403154
- Likely pathogenic
- T-B+ severe combined immunodeficiency due to JAK3 deficiency; JAK3-related disor
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.89
- CADD 25.90
- ClinVar: Likely pathogenic (T-B+ severe combined immunodeficiency due to JAK3 deficiency; JA)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available