Is TACO1 p.Arg33= (c.99G>A) pathogenic?

TACO1 p.Arg33= (c.99G>A) is classified Likely benign in TACO1 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-07-17). No allele count reported in gnomAD v4.1 (AN 1,551,968).

How common is TACO1 p.Arg33= (c.99G>A) in the general population?

TACO1 p.Arg33= (c.99G>A) is no allele count reported in gnomAD v4.1 (AN 1,551,968) (gnomAD).

TACO1 p.Arg33=

c.99G>A · rs1195907944 · VCV2017897

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,551,968)

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 0.29	GERP -0.23
Overall
CADD	6.823	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,551,968). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: TACO1
Protein: p.Arg33=
Coding: c.99G>A
MANE Select: NM_016360
dbSNP: rs1195907944
Type: single nucleotide variant
Location: chr17:63601182 (GRCh38)
Gene constraint: LOEUF 0.848 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 84.91 · 8 PDB
Residue 33: the 'disordered' region

Full TACO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

TACO1 p.Arg33Gln Uncertain significance ★ ⚠ same residue
TACO1 p.Arg33Leu Uncertain significance ★ ⚠ same residue
TACO1 p.Arg33fs Pathogenic ★ same residue
TACO1 c.280+1G>C Pathogenic/Likely pathogenic ★★ same type
TACO1 p.Arg141Ter Pathogenic ★★ same type
TACO1 p.Arg113His Uncertain significance ★★ ⚠ same type
TACO1 p.Arg141Gln Uncertain significance ★★ ⚠ same type
TACO1 p.Arg205Cys 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/taco1-p-arg33 (accessed [today's date]).

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