D171N (p.Asp171Asn) variant of STAT1 (P42224)
D171N (p.Asp171Asn) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
D171N (p.Asp171Asn) variant details
- p.Asp171Asn
- rs2125075054
- ClinGen CA349924402
- ClinVar RCV002003654
- Ensembl rs2125075054
- Likely pathogenic
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- AlphaMissense 0.91
- MetaLR 0.45
- MetaSVM -0.27
- PolyPhen-2 0.83
- SIFT 0.00
- EVE 0.62
- ClinVar: Likely pathogenic (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available