N179S (p.Asn179Ser) variant of STAT1 (P42224)
N179S (p.Asn179Ser) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
N179S (p.Asn179Ser) variant details
- p.Asn179Ser
- rs774611299
- ClinGen CA2030214
- ClinVar RCV000986962
- ExAC rs774611299
- Uncertain significance
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.10
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- EBI: Variant of uncertain significance (in IMD31C)
- UniProt: Uncertain significance (in IMD31C)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available