TAF6 p.Ser264=
c.792G>A · rs577267950 · VCV761233
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.136%, sas)
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 -12 | GERP -3.9 |
| Overall | ||
| CADD | 2.28 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.136%
South Asian · 124/91,080 alleles
Filtering AF
0.117%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.109%
Overall
0.00874%
141/1,614,102 alleles · rare
exomes 132/1,461,890 · genomes 9/152,212 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.136% | 735 |
| Middle Eastern | 0.0165% | 6,062 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,502 |
| European (non-Finnish) | 0.000932% | 107,274 |
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
- TAF6
- Protein
- p.Ser264=
- Coding
- c.792G>A
- MANE Select
- NM_139315
- dbSNP
- rs577267950
- Type
- single nucleotide variant
- Location
- chr7:100111928 (GRCh38)
- Gene constraint
- LOEUF 0.827 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 64.81 · 33 PDB
- Residue 264
- a modified residue (phosphoserine); an α-helix
Similar variants
- TAF6 p.Ser264Ala Uncertain significance ★ ⚠ same residue
- TAF6 p.Cys36Ser Uncertain significance ★★ ⚠ same type
- TAF6 p.Ser425Thr Uncertain significance ★★ ⚠ same type
- TAF6 p.Thr368Met Uncertain significance ★★ ⚠ same type
- AP4M1 c.*322A>G Benign ★★ same type
- TAF6 c.1083+17T>G Benign ★★ same type
- TAF6 c.1084-53G>A Benign ★★ same type
- TAF6 c.1158+14G>A Benign/Likely 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/taf6-p-ser264 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown