STAT1 p.Ser144=
c.432T>C · VCV4959187
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00223%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.7 | GERP 0.62, phastCons 1 |
| Overall | ||
| CADD | 11.52 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00223%
East Asian · 1/44,874 alleles
Overall
6.2e-05%
1/1,614,016 alleles · very rare
exomes 1/1,461,710 · genomes 0/152,306 · joint denominator
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- STAT1
- Protein
- p.Ser144=
- Coding
- c.432T>C
- MANE Select
- NM_007315
- Type
- single nucleotide variant
- Location
- chr2:191001104 (GRCh38)
- Gene constraint
- LOEUF 0.271 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 87.78 · 10 PDB
- Residue 144
- an α-helix
Similar variants
- STAT1 p.Ala267Val Pathogenic ★★ ⚠ same type
- STAT1 p.Arg274Gln Pathogenic ★★ ⚠ same type
- STAT1 p.Arg274Gly Pathogenic/Likely pathogenic ★★ same type
- STAT1 p.Arg274Trp Pathogenic ★★ same type
- STAT1 p.Asp171Asn Likely pathogenic ★★ ⚠ same type
- STAT1 p.Asp292Glu Likely pathogenic ★★ ⚠ same type
- STAT1 p.Cys324Arg Likely pathogenic ★★ same type
- STAT1 p.Gln271Pro Pathogenic/Likely pathogenic ★★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/stat1-p-ser144 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown