Is TRAP1 p.Ala492= (c.1476C>T) pathogenic?

TRAP1 p.Ala492= (c.1476C>T) is classified Likely benign in TRAP1 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-08-05). Very rare (popmax 0.00991%, sas).

How common is TRAP1 p.Ala492= (c.1476C>T) in the general population?

TRAP1 p.Ala492= (c.1476C>T) is very rare (popmax 0.00991%, sas) (gnomAD).

TRAP1 p.Ala492=

c.1476C>T · VCV3667442

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00991%, sas)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -6.9	GERP -3.5
Overall
CADD	0.575	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00991% South Asian · 9/90,836 alleles

Filtering AF 0.00515% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00376%

Overall 0.00384% 62/1,612,928 alleles · very rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.00991%	10,093
Remaining individualsnot grpmax-eligible	0.00961%	10,407
European (non-Finnish)	0.00365%	27,432
African / African-American	0.00267%	37,515
East Asian	0.00223%	44,856
Admixed American	0.00167%	59,816

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: TRAP1
Protein: p.Ala492=
Coding: c.1476C>T
MANE Select: NM_005223 · reported on NM_016292
Type: single nucleotide variant
Location: chr16:3664367 (GRCh38)

Full TRAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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/trap1-p-ala492 (accessed [today's date]).

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