Q63R (p.Gln63Arg) variant of STAT1 (P42224)
Q63R (p.Gln63Arg) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Q63R (p.Gln63Arg) variant details
- p.Gln63Arg
- rs2125100837
- ClinGen CA349928028
- ClinVar RCV001473108
- Ensembl rs2125100837
- Likely benign
- Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.42
- CADD 26.90
- PolyPhen-2 0.91
- SIFT 0.02
- ClinVar: Likely benign (Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available