I160L (p.Ile160Leu) variant of STAT1 (P42224)
I160L (p.Ile160Leu) 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 0.36 / 1. The record also includes population frequency data and structural context.
I160L (p.Ile160Leu) variant details
- p.Ile160Leu
- rs371548986
- ClinGen CA2030216
- ClinVar RCV000803708
- ClinVar RCV001337083
- Uncertain significance
- Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.19
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.21
- 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 5e-05)
- Structural context available