TAF2 p.Pro517=
c.1551G>A · rs147865905 · VCV436941
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0885%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.027 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.84 | GERP -3.6, phastCons 0.99 |
| Overall | ||
| CADD | 11.61 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0885%
European (non-Finnish) · 1,044/1,179,870 alleles
Filtering AF
0.084%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0822%
Overall
0.0711%
1,148/1,613,610 alleles · ultra-rare
exomes 1,065/1,461,448 · genomes 83/152,162 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0885% | 1,130 |
| Remaining individualsnot grpmax-eligible | 0.0432% | 2,314 |
| Admixed American | 0.0383% | 2,608 |
| African / African-American | 0.0373% | 2,678 |
| South Asian | 0.0264% | 3,795 |
| East Asian | 0.00446% | 22,399 |
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
- TAF2
- Protein
- p.Pro517=
- Coding
- c.1551G>A
- MANE Select
- NM_003184
- dbSNP
- rs147865905
- Type
- single nucleotide variant
- Location
- chr8:119789609 (GRCh38)
- Gene constraint
- LOEUF 0.551 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 74.09 · 29 PDB
- Residue 517
- an α-helix
Similar variants
- TAF2 p.Pro517Leu Uncertain significance ★★ ⚠ same residue
- TAF2 p.Ala244Val Uncertain significance ★★ ⚠ same type
- TAF2 p.Arg1077Trp Uncertain significance ★★ ⚠ same type
- TAF2 p.Arg1082Gln Uncertain significance ★★ ⚠ same type
- TAF2 p.Arg1082Leu Uncertain significance ★★ ⚠ same type
- TAF2 p.Arg1193Cys Uncertain significance ★★ ⚠ same type
- TAF2 p.Arg1193His Uncertain significance ★★ ⚠ same type
- TAF2 p.Arg795His Uncertain significance ★★ ⚠ 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/taf2-p-pro517 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown