P84L (p.Pro84Leu) variant of JAK3 (Tyrosine-protein kinase JAK3)
P84L (p.Pro84Leu) 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 0.67 / 1. The record also includes population frequency data and structural context.
P84L (p.Pro84Leu) variant details
- p.Pro84Leu
- rs201067961
- ClinGen CA9302215
- cosmic curated COSV10594
- ClinVar RCV002581641
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.67
- CADD 26.20
- PolyPhen-2 0.58
- SIFT 0.00
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available