Is TAOK2 p.Pro191= (c.573C>T) pathogenic?

TAOK2 p.Pro191= (c.573C>T) is classified Likely benign in TAOK2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-12-12). Ultra-rare (popmax 0.0131%, nfe).

How common is TAOK2 p.Pro191= (c.573C>T) in the general population?

TAOK2 p.Pro191= (c.573C>T) is ultra-rare (popmax 0.0131%, nfe) (gnomAD).

TAOK2 p.Pro191=

c.573C>T · rs372951562 · VCV2415409

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0131%, 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 -5.8	GERP -3.8
Overall
CADD	2.778	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0131% European (non-Finnish) · 153/1,164,690 alleles

Filtering AF 0.0114% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0108%

Overall 0.01% 159/1,587,470 alleles · ultra-rare exomes 157/1,435,326 · genomes 2/152,144 · joint denominator

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.0131%	7,612
Remaining individualsnot grpmax-eligible	0.00489%	20,433
Ashkenazi Jewishnot grpmax-eligible	0.00361%	27,686
African / African-American	0.00269%	37,182

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: TAOK2
Protein: p.Pro191=
Coding: c.573C>T
MANE Select: NM_016151
dbSNP: rs372951562
Type: single nucleotide variant
Location: chr16:29979426 (GRCh38)
Gene constraint: LOEUF 0.459 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 67.17
Residue 191: the protein kinase domain

Full TAOK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

TAOK2 p.Ala1057Val Uncertain significance ★★ ⚠ same type
TAOK2 p.Ala1062Val Uncertain significance ★★ ⚠ same type
TAOK2 p.Ala1148Thr Uncertain significance ★★ ⚠ same type
TAOK2 p.Ala444Val Uncertain significance ★★ ⚠ same type
TAOK2 p.Ala733Val Uncertain significance ★★ ⚠ same type
TAOK2 p.Ala747Val Uncertain significance ★★ ⚠ same type
TAOK2 p.Ala761Val Uncertain significance ★★ ⚠ same type
TAOK2 p.Ala988Val 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/taok2-p-pro191 (accessed [today's date]).

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