L73V (p.Leu73Val) variant of JAK3 (Tyrosine-protein kinase JAK3)
L73V (p.Leu73Val) 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 0.43 / 1. The record also includes population frequency data and structural context.
L73V (p.Leu73Val) variant details
- p.Leu73Val
- rs2094245829
- ClinGen CA404774678
- ClinVar RCV001977633
- TOPMed rs2094245829
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.48
- CADD 22.90
- PolyPhen-2 0.97
- 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 Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available