L46W (p.Leu46Trp) variant of IL7R (P16871)
L46W (p.Leu46Trp) in IL7R (P16871) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 104. The record also includes structural context.
L46W (p.Leu46Trp) variant details
- p.Leu46Trp
- rs2531547515
- ClinGen CA359426763
- ClinVar RCV003990961
- Uncertain significance
- Immunodeficiency 104
- Missense
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available