R241Q (p.Arg241Gln) variant of STAT1 (P42224)
R241Q (p.Arg241Gln) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of STAT1-related disorder; Mendelian susceptibility to mycobacterial diseases due t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R241Q (p.Arg241Gln) variant details
- p.Arg241Gln
- rs146273341
- ClinGen CA2030162
- cosmic curated COSV61190
- ClinVar RCV000364320
- Conflicting interpretations
- STAT1-related disorder; Mendelian susceptibility to mycobacterial diseases due t
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.14
- CADD 12.90
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:IBS population (allele frequency 0.014)
- 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)