L10V (p.Leu10Val) variant of JAK3 (Tyrosine-protein kinase JAK3)
L10V (p.Leu10Val) 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 0.33 / 1. The record also includes population frequency data and structural context.
L10V (p.Leu10Val) variant details
- p.Leu10Val
- rs1052019264
- ClinGen CA306142625
- cosmic curated COSV71686
- ClinVar RCV000639634
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.32
- CADD 20.80
- PolyPhen-2 0.66
- SIFT 0.02
- 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 2.4e-05)
- Structural context available