Is TACO1 p.Pro271= (c.813C>T) pathogenic?

TACO1 p.Pro271= (c.813C>T) is classified Likely benign in TACO1 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2022-10-25). Ultra-rare (popmax 0.0267%, afr).

How common is TACO1 p.Pro271= (c.813C>T) in the general population?

TACO1 p.Pro271= (c.813C>T) is ultra-rare (popmax 0.0267%, afr) (gnomAD).

TACO1 p.Pro271=

c.813C>T · rs151139810 · VCV1642870

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0267%, afr)

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 -10	GERP -3.7
Overall
CADD	0.852	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0267% African / African-American · 20/74,932 alleles

Filtering AF 0.0177% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0147%

Overall 0.0031% 50/1,614,084 alleles · ultra-rare exomes 35/1,461,890 · genomes 15/152,194 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.0267%	3,747
European (non-Finnish)	0.00246%	40,691
Admixed American	0.00167%	60,000

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: TACO1
Protein: p.Pro271=
Coding: c.813C>T
MANE Select: NM_016360
dbSNP: rs151139810
Type: single nucleotide variant
Location: chr17:63607921 (GRCh38)
Gene constraint: LOEUF 0.848 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 84.91 · 8 PDB

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

Similar variants

TACO1 p.Pro271Ser Uncertain significance ★ ⚠ 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
TACO1 p.Arg89Cys Uncertain significance ★★ ⚠ same type
TACO1 p.Asn171His 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-pro271 (accessed [today's date]).

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