Is TAF4 p.Pro331= (c.993C>G) pathogenic?

TAF4 p.Pro331= (c.993C>G) is classified Likely benign in TAF4 (ClinVar, Single submitter, 1 submitter; last evaluated 2026-03-01). Rare (popmax 0.136%, afr).

How common is TAF4 p.Pro331= (c.993C>G) in the general population?

TAF4 p.Pro331= (c.993C>G) is rare (popmax 0.136%, afr) (gnomAD).

TAF4 p.Pro331=

c.993C>G · VCV4821997

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.136%, afr)

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 0.032	GERP -0.68, phastCons 0.043
Overall
CADD	4.985	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.136% African / African-American · 76/55,792 alleles

Filtering AF 0.112% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.102%

Overall 0.00909% 89/979,422 alleles · rare exomes 37/836,816 · genomes 52/142,606 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.136%	734
Middle Eastern	0.0522%	1,914
Remaining individualsnot grpmax-eligible	0.0101%	9,856
Admixed American	0.00632%	15,814
European (non-Finnish)	0.000966%	103,497

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.Pro331=
Coding: c.993C>G
MANE Select: NM_003185
Type: single nucleotide variant
Location: chr20:62064818 (GRCh38)

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

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-pro331 (accessed [today's date]).

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