I63V (p.Ile63Val) variant of JAK3 (Tyrosine-protein kinase JAK3)
I63V (p.Ile63Val) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.38 / 1. The record also includes population frequency data and structural context.
I63V (p.Ile63Val) variant details
- p.Ile63Val
- rs144405201
- ClinGen CA9302225
- cosmic curated COSV10611
- ClinVar RCV000239244
- Likely benign
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.37
- CADD 21.60
- PolyPhen-2 0.40
- SIFT 0.14
- ClinVar: Likely benign (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0072)
- Structural context available