N71T (p.Asn71Thr) variant of IL2RG (P31785)
N71T (p.Asn71Thr) in IL2RG (P31785) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
N71T (p.Asn71Thr) variant details
- p.Asn71Thr
- rs1556330963
- ClinGen CA645373305
- ClinVar RCV000498292
- Ensembl rs1556330963
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available