R180K (p.Arg180Lys) variant of STAT1 (P42224)
R180K (p.Arg180Lys) in STAT1 (P42224) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R180K (p.Arg180Lys) variant details
- p.Arg180Lys
- TOPMed rs1375484778
- gnomAD rs1375484778
- Conflicting interpretations
- Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.18
- CADD 23.30
- ClinVar: Conflicting classifications of pathogenicity (Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy)
- UniProt: Conflicting interpretations
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available