R73H (p.Arg73His) variant of STAT2 (P52630)
R73H (p.Arg73His) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R73H (p.Arg73His) variant details
- p.Arg73His
- rs375433807
- ClinGen CA6630928
- ClinVar RCV003084572
- ClinVar RCV006381830
- Uncertain significance
- Inborn genetic diseases; Primary immunodeficiency with post-measles-mumps-rubell
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.11
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases; Primary immunodeficiency with post-meas)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- 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)