P80T (p.Pro80Thr) variant of IL2RG (P31785)
P80T (p.Pro80Thr) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
P80T (p.Pro80Thr) variant details
- p.Pro80Thr
- rs2147750896
- ClinGen CA413497028
- ClinVar RCV001915015
- Ensembl rs2147750896
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- AlphaMissense 0.09
- MetaLR 0.76
- MetaSVM 0.09
- PolyPhen-2 0.02
- SIFT 0.76
- EVE 0.23
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)