T29M (p.Thr29Met) variant of IL2RG (P31785)
T29M (p.Thr29Met) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
T29M (p.Thr29Met) variant details
- p.Thr29Met
- rs375921454
- ClinGen CA10443951
- ClinVar RCV000924456
- ClinVar RCV004029499
- Conflicting interpretations
- Inborn genetic diseases; X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.18
- CADD 5.40
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; X-linked severe combined immunodeficien)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- 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)