STAT4 p.Ser624fs
c.1871del · rs2470644378 · VCV2032986
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 21 of 24 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -3.4 | GERP -3.4 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- STAT4
- Protein
- p.Ser624fs
- Coding
- c.1871del
- MANE Select
- NM_003151
- dbSNP
- rs2470644378
- Type
- Deletion
- Location
- chr2:191033131 (GRCh38)
- Gene constraint
- LOEUF 0.503 · pLI 0.93 (gnomAD)
- Structure
- AlphaFold pLDDT 86.87
- Residue 624
- the sh2 domain
Similar variants
- STAT4 c.1252-2del Uncertain significance ★ same type
- STAT4 p.Phe548_Phe550del Uncertain significance ★ same type
- STAT4 c.1094+16del Likely benign ★ same type
- STAT4 c.1206+19_1206+26del Likely benign ★ same type
- STAT4 c.129-3del Benign ★ same type
- STAT4 c.1336-14del Benign ★ same type
- STAT4 c.1336-5del Likely benign ★ same type
- STAT4 c.1336-8del Benign ★ 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/stat4-p-ser624fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown