Q178R (p.Gln178Arg) variant of STAT1 (P42224)
Q178R (p.Gln178Arg) 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 0.38 / 1. The record also includes structural context.
Q178R (p.Gln178Arg) variant details
- p.Gln178Arg
- rs2125074995
- ClinGen CA349924346
- ClinVar RCV001993775
- Ensembl rs2125074995
- Uncertain significance
- Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.14
- MetaLR 0.24
- MetaSVM -0.61
- PolyPhen-2 0.01
- SIFT 0.02
- EVE 0.42
- ClinVar: Uncertain significance (Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available