M1T (p.Met1Thr) variant of IL2RG (P31785)
M1T (p.Met1Thr) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked severe combined immunodeficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs886041334
- ClinGen CA10603689
- ClinVar RCV000301048
- ClinVar RCV006462295
- Pathogenic
- X-linked severe combined immunodeficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- MetaLR 0.70
- MetaSVM 0.39
- PolyPhen-2 0.42
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (X-linked severe combined immunodeficiency; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)