TAF6 p.Val323=
c.969G>A · rs200158075 · VCV740650
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.012%, 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 1.4 | GERP 0.96, phastCons 1 |
| Overall | ||
| CADD | 10.1 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.012%
African / African-American · 9/75,044 alleles
Filtering AF
0.00622%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00467%
Overall
0.00105%
17/1,614,208 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.012% | 8,338 |
| Admixed American | 0.00666% | 15,006 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,256 |
| European (non-Finnish) | 0.000169% | 590,019 |
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.Val323=
- Coding
- c.969G>A
- MANE Select
- NM_139315
- dbSNP
- rs200158075
- Type
- single nucleotide variant
- Location
- chr7:100111253 (GRCh38)
- Gene constraint
- LOEUF 0.827 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 64.81 · 33 PDB
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-val323 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown