C155R (p.Cys155Arg) variant of STAT1 (P42224)
C155R (p.Cys155Arg) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
C155R (p.Cys155Arg) variant details
- p.Cys155Arg
- rs373784601
- ClinGen CA2030217
- ClinVar RCV003795583
- ClinVar RCV005495634
- Uncertain significance
- Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.12
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)