A32T (p.Ala32Thr) variant of IFNGR2 (Interferon gamma receptor 2)
A32T (p.Ala32Thr) in IFNGR2 (Interferon gamma receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Immunodeficiency 28. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- rs772248868
- ClinGen CA10006861
- cosmic curated COSV51641
- ClinVar RCV002048022
- Conflicting interpretations
- Inborn genetic diseases; Immunodeficiency 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.13
- MetaLR 0.29
- MetaSVM -0.74
- CADD 10.40
- PolyPhen-2 0.08
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Immunodeficiency 28)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 4.6e-05)
- 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)