V55M (p.Val55Met) variant of JAK3 (Tyrosine-protein kinase JAK3)
V55M (p.Val55Met) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.47 / 1. The record also includes population frequency data and structural context.
V55M (p.Val55Met) variant details
- p.Val55Met
- rs749334592
- ClinGen CA9302257
- NCI-TCGA Cosmic COSV1015
- ClinVar RCV002639470
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.36
- CADD 23.50
- PolyPhen-2 0.19
- SIFT 0.04
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available