S5N (p.Ser5Asn) variant of JAK3 (Tyrosine-protein kinase JAK3)
S5N (p.Ser5Asn) 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 0.24 / 1. The record also includes population frequency data and structural context.
S5N (p.Ser5Asn) variant details
- p.Ser5Asn
- rs566269022
- ClinGen CA9302285
- ClinVar RCV001038374
- 1000Genomes rs566269022
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.20
- CADD 2.47
- PolyPhen-2 0.10
- SIFT 0.94
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available