T25M (p.Thr25Met) variant of IL2RG (P31785)
T25M (p.Thr25Met) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
T25M (p.Thr25Met) variant details
- p.Thr25Met
- rs751455361
- ClinGen CA10443955
- ClinVar RCV002095920
- ClinVar RCV005854214
- Conflicting interpretations
- Inborn genetic diseases; X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.32
- CADD 17.40
- PolyPhen-2 0.06
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; X-linked severe combined immunodeficien)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:BEB population (allele frequency 0.0067)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)