D292E (p.Asp292Glu) variant of STAT1 (P42224)
D292E (p.Asp292Glu) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Immunodeficiency 31B; Mendelian susceptibility to mycobacterial diseases due to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes structural context.
D292E (p.Asp292Glu) variant details
- p.Asp292Glu
- rs1085307649
- ClinGen CA349921679
- ClinVar RCV000489515
- ClinVar RCV000795005
- Likely pathogenic
- Immunodeficiency 31B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- AlphaMissense 0.97
- MetaLR 0.37
- MetaSVM -0.37
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (Immunodeficiency 31B; Mendelian susceptibility to mycobacterial)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available