TAF4 p.Pro87fs
c.260_261del · VCV4880722
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 1 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.3 | GERP 0.26, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- TAF4
- Protein
- p.Pro87fs
- Coding
- c.260_261del
- MANE Select
- NM_003185
- Type
- Deletion
- Location
- chr20:62065550 (GRCh38)
- Gene constraint
- LOEUF 0.205 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 54.71 · 32 PDB
- Residue 87
- the 'disordered' region
Similar variants
- TAF4 p.Ser109fs Uncertain significance ★★ same type
- TAF4 p.Ala253fs Likely pathogenic ★ same type
- TAF4 p.Arg1054fs Likely pathogenic ★ same type
- TAF4 p.Glu919fs Likely pathogenic ★ same type
- TAF4 p.Gly285fs Likely pathogenic ★ same type
- TAF4 p.Gly510fs Likely pathogenic ★ same type
- TAF4 p.Gly72fs Likely pathogenic ★ same type
- TAF4 p.Ile675fs 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/taf4-p-pro87fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown