A267V (p.Ala267Val) variant of STAT1 (P42224)
A267V (p.Ala267Val) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.43 / 1. The record also includes published literature and structural context.
A267V (p.Ala267Val) variant details
- p.Ala267Val
- rs387906759
- ClinGen CA128926
- NCI-TCGA Cosmic COSV6118
- cosmic curated COSV61189
- Pathogenic
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.31
- MetaLR 0.35
- MetaSVM -0.34
- PolyPhen-2 0.76
- SIFT 0.04
- EVE 0.30
- ClinVar: Pathogenic (Mendelian susceptibility to mycobacterial diseases due to partia)
- EBI: Pathogenic (in IMD31C)
- UniProt: Pathogenic (in IMD31C)
- Structural context available
- Cited in: STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. (PMID 21714643)
- Cited in: Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. (PMID 21727188)