TAF6 p.Val80=
c.240C>T · VCV4873525
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00335%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>T here scores Δ0.24 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -6.1 | GERP -4 |
| Overall | ||
| CADD | 0.399 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00335%
Admixed American · 2/59,760 alleles
Filtering AF
0.00111%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0009%
Overall
0.00161%
26/1,611,962 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00335% | 29,880 |
| Finnishnot grpmax-eligible | 0.00314% | 31,869 |
| East Asian | 0.00223% | 44,828 |
| European (non-Finnish) | 0.0017% | 58,972 |
| South Asian | 0.0011% | 91,004 |
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.Val80=
- Coding
- c.240C>T
- MANE Select
- NM_139315
- Type
- single nucleotide variant
- Location
- chr7:100113871 (GRCh38)
- Gene constraint
- LOEUF 0.827 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 64.81 · 33 PDB
- Residue 80
- an α-helix
Similar variants
- TAF6 p.Val80Leu 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-val80 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown