TAF6 p.Pro146=
c.438C>T · rs141064340 · VCV1572983
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.87%, afr)
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 | GERP -4.2 |
| Overall | ||
| CADD | 4.486 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.87%
African / African-American · 644/74,008 alleles
Filtering AF
0.815%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.792%
Overall
0.0526%
840/1,595,532 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.87% | 115 |
| Admixed American | 0.11% | 911 |
| Remaining individualsnot grpmax-eligible | 0.0846% | 1,181 |
| European (non-Finnish) | 0.00683% | 14,633 |
| Finnishnot grpmax-eligible | 0.00157% | 63,678 |
| South Asian | 0.00112% | 89,268 |
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.Pro146=
- Coding
- c.438C>T
- MANE Select
- NM_139315
- dbSNP
- rs141064340
- Type
- single nucleotide variant
- Location
- chr7:100113365 (GRCh38)
- Gene constraint
- LOEUF 0.827 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 64.81 · 33 PDB
- Residue 146
- the 'disordered' region
Similar variants
- 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
- TAF6 c.1159-16T>C 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-pro146 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown