Is TAF4 p.Pro192= (c.576C>T) pathogenic?

TAF4 p.Pro192= (c.576C>T) is classified Likely benign in TAF4 (ClinVar, Single submitter, 1 submitter; last evaluated 2026-05-01). Ultra-rare (popmax 0.0306%, nfe).

How common is TAF4 p.Pro192= (c.576C>T) in the general population?

TAF4 p.Pro192= (c.576C>T) is ultra-rare (popmax 0.0306%, nfe) (gnomAD).

TAF4 p.Pro192=

c.576C>T · VCV4873468

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0306%, nfe)

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 5	GERP 0.18, phastCons 1
Overall
CADD	12.72	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0306% European (non-Finnish) · 271/886,534 alleles

Filtering AF 0.0275% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0263%

Overall 0.0275% 302/1,098,590 alleles · ultra-rare exomes 281/967,832 · genomes 21/130,758 · joint denominator

Ancestry group	Frequency	1 in
Remaining individualsnot grpmax-eligible	0.0521%	1,918
European (non-Finnish)grpmax	0.0306%	3,271
South Asian	0.0106%	9,423
Admixed American	0.00749%	13,345
African / African-American	0.00741%	13,504
Finnishnot grpmax-eligible	0.00732%	13,664

Remaining individuals shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

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: TAF4
Protein: p.Pro192=
Coding: c.576C>T
MANE Select: NM_003185
Type: single nucleotide variant
Location: chr20:62065235 (GRCh38)
Gene constraint: LOEUF 0.205 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 54.71 · 32 PDB
Residue 192: the 'disordered' region

Full TAF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

TAF4 p.Ala153Val Uncertain significance ★★ ⚠ same type
TAF4 p.Ala251Thr Uncertain significance ★★ ⚠ same type
TAF4 p.Arg774Gln Uncertain significance ★★ ⚠ same type
TAF4 p.Gly171Cys Uncertain significance ★★ ⚠ same type
TAF4 p.Gly306Glu Uncertain significance ★★ ⚠ same type
TAF4 p.Leu58Val Uncertain significance ★★ ⚠ same type
TAF4 p.Pro241Leu Uncertain significance ★★ ⚠ same type
TAF4 p.Asn220Ser 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/taf4-p-pro192 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown