Is TACO1 p.Pro271Ser (c.811C>T) pathogenic?

TACO1 p.Pro271Ser (c.811C>T) is classified Uncertain significance in TACO1 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-08-11). AlphaMissense: likely benign (0.074); Very rare (popmax 0.0022%, nfe).

How common is TACO1 p.Pro271Ser (c.811C>T) in the general population?

TACO1 p.Pro271Ser (c.811C>T) is very rare (popmax 0.0022%, nfe) (gnomAD).

What do computational predictors say about TACO1 p.Pro271Ser (c.811C>T)?

AlphaMissense predicts likely benign (score 0.074) — an in-silico prediction, not a clinical call.

TACO1 p.Pro271Ser

c.811C>T · rs767318381 · VCV1937755

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.074 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.0022%, nfe)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.074	likely benign
REVEL	0.038	moderately benign-leaning
SaProt	LLR -5.98	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.075	GERP -1.5
Regional constraint	o/e 0.93	unconstrained · MANE · 6,915 bp · p 0.15 · regional, not allelic
Overall
CADD	7.826	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0022% European (non-Finnish) · 26/1,180,038 alleles

Filtering AF 0.00153% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0013%

Overall 0.00167% 27/1,614,180 alleles · very rare exomes 27/1,461,890 · genomes 0/152,290 · joint denominator

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.0022%	45,386
Remaining individualsnot grpmax-eligible	0.0016%	62,502

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.Pro271Ser
Coding: c.811C>T
MANE Select: NM_016360
dbSNP: rs767318381
Type: single nucleotide variant
Location: chr17:63607919 (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.Pro271= Likely benign ★★ 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-pro271ser (accessed [today's date]).

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