I39T (p.Ile39Thr) variant of STAT2 (P52630)
I39T (p.Ile39Thr) in STAT2 (P52630) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Primary immunodeficiency with post-measles-mumps-rubell. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
I39T (p.Ile39Thr) variant details
- p.Ile39Thr
- rs757152982
- ClinGen CA6630958
- ClinVar RCV000545981
- ClinVar RCV005492843
- Uncertain significance
- Inborn genetic diseases; Primary immunodeficiency with post-measles-mumps-rubell
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.77
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Primary immunodeficiency with post-meas)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)