TAF1 p.Pro752=
c.2256A>G · VCV4804910
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00652%, amr)
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 2.1 | GERP 2, phastCons 1 |
| Overall | ||
| CADD | 10.86 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00652%
Admixed American · 3/46,035 alleles
Filtering AF
0.00173%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000879%
Overall
0.000273%
3/1,098,219 alleles · very rare
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
- TAF1
- Protein
- p.Pro752=
- Coding
- c.2256A>G
- MANE Select
- NM_004606
- Type
- single nucleotide variant
- Location
- chrX:71387290 (GRCh38)
- Structure
- AlphaFold pLDDT 62.62 · 65 PDB
- Residue 752
- a β-strand; the 'histone acetyltransferase (hat)' region
Similar variants
- TAF1 p.Pro752Ala Uncertain significance ★ ⚠ same residue
- TAF1 p.Arg1062Cys Likely pathogenic ★★ ⚠ same type
- TAF1 p.Arg1234Gln Pathogenic/Likely pathogenic ★★ same type
- TAF1 p.Arg1432His Pathogenic ★★ same type
- TAF1 p.Arg870Cys Pathogenic/Likely pathogenic ★★ same type
- TAF1 p.Asn1497His Pathogenic/Likely pathogenic ★★ same type
- TAF1 p.Ile1317Thr Pathogenic ★★ same type
- TAF1 p.Phe403Val 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/taf1-p-pro752 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown