TAF6 p.Pro570=
c.1710C>T · rs138356641 · VCV3059325
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00668%, eas)
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 -8.1 | GERP -4.3 |
| Overall | ||
| CADD | 0.04 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00668%
East Asian · 3/44,896 alleles
Filtering AF
0.00386%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00353%
Overall
0.00452%
73/1,613,800 alleles · very rare
exomes 64/1,461,622 · genomes 9/152,178 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00668% | 14,965 |
| Admixed American | 0.005% | 19,992 |
| European (non-Finnish) | 0.00492% | 20,344 |
| South Asian | 0.00329% | 30,354 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,234 |
| Finnishnot grpmax-eligible | 0.00313% | 31,999 |
| African / African-American | 0.00267% | 37,452 |
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.Pro570=
- Coding
- c.1710C>T
- MANE Select
- NM_139315
- dbSNP
- rs138356641
- Type
- single nucleotide variant
- Location
- chr7:100107570 (GRCh38)
- Gene constraint
- LOEUF 0.827 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 64.81 · 33 PDB
- Residue 570
- 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-pro570 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown