N49D (p.Asn49Asp) variant of IL7R (P16871)
N49D (p.Asn49Asp) 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.
N49D (p.Asn49Asp) variant details
- p.Asn49Asp
- rs2531547543
- ClinGen CA359426796
- ClinVar RCV003514677
- Uncertain significance
- Immunodeficiency 104
- Missense
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available