Is TAPBP p.Ala271Pro (c.811G>C) pathogenic?

TAPBP p.Ala271Pro (c.811G>C) is classified Uncertain significance in TAPBP (ClinVar, Single submitter, 1 submitter; last evaluated 2025-10-22). AlphaMissense: likely pathogenic (0.892); No allele count reported in gnomAD v4.1 (AN 1,614,160).

How common is TAPBP p.Ala271Pro (c.811G>C) in the general population?

TAPBP p.Ala271Pro (c.811G>C) is no allele count reported in gnomAD v4.1 (AN 1,614,160) (gnomAD).

What do computational predictors say about TAPBP p.Ala271Pro (c.811G>C)?

AlphaMissense predicts likely pathogenic (score 0.892) — an in-silico prediction, not a clinical call.

TAPBP p.Ala271Pro

c.811G>C · VCV4592636

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.892 · ACMG-weighted

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,614,160)

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.892	likely pathogenic · top 3% in TAPBP
REVEL	0.287	benign-leaning
SaProt	LLR -9.86	tolerated
⇒ AlphaMissense calls this damaging; REVEL and SaProt do not.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 7.5	GERP 1.5, phastCons 1
Overall
CADD	25.0	PHRED · no single calibrated threshold — expert panels disagree

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

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,614,160). 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: TAPBP
Protein: p.Ala271Pro
Coding: c.811G>C
MANE Select: NM_003190
Type: single nucleotide variant
Location: chr6:33305046 (GRCh38)
Gene constraint: LOEUF 1.061 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 87.71 · 12 PDB
Residue 271: a β-strand

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

Similar variants

TAPBP p.Ala191Thr Uncertain significance ★★ ⚠ same type
TAPBP p.Ala220Val Uncertain significance ★★ ⚠ same type
TAPBP p.Ala305Ser Uncertain significance ★★ ⚠ same type
TAPBP p.Ala305Thr Uncertain significance ★★ ⚠ same type
TAPBP p.Ala309Glu Uncertain significance ★★ ⚠ same type
TAPBP p.Ala396Thr Uncertain significance ★★ ⚠ same type
TAPBP p.Ala433Thr Uncertain significance ★★ ⚠ same type
TAPBP p.Arg208Cys 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/tapbp-p-ala271pro (accessed [today's date]).

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