D165H (p.Asp165His) variant of STAT1 (P42224)
D165H (p.Asp165His) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
D165H (p.Asp165His) variant details
- p.Asp165His
- rs387906767
- ClinGen CA128942
- ClinVar RCV000022995
- ClinVar RCV005416109
- Likely pathogenic
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- AlphaMissense 0.96
- MetaLR 0.71
- MetaSVM 0.43
- PolyPhen-2 0.85
- SIFT 0.00
- EVE 0.44
- ClinVar: Likely pathogenic (Mendelian susceptibility to mycobacterial diseases due to partia)
- EBI: Pathogenic (in IMD31C)
- UniProt: Pathogenic (in IMD31C)
- Structural context available
- Cited in: Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. (PMID 21727188)
- Cited in: STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. (PMID 21714643)