TAF2 p.Phe190=
c.570C>T · VCV3701025
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000933%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.2 | GERP -0.88, phastCons 1 |
| Overall | ||
| CADD | 7.939 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000933%
European (non-Finnish) · 11/1,179,546 alleles
Filtering AF
0.0005%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000366%
Overall
0.000682%
11/1,613,010 alleles · very rare
exomes 10/1,460,990 · genomes 1/152,020 · joint denominator
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.Phe190=
- Coding
- c.570C>T
- MANE Select
- NM_003184
- Type
- single nucleotide variant
- Location
- chr8:119802016 (GRCh38)
- Gene constraint
- LOEUF 0.551 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 74.09 · 29 PDB
Similar variants
- 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
- TAF2 p.Asn787Thr 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-phe190 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown