Is PEX6 p.Pro451Thr (c.1350_1351delinsAA) pathogenic?

PEX6 p.Pro451Thr (c.13501351delinsAA) is classified Uncertain significance in PEX6 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-06-29). No gnomAD frequency available for this variant; Associated with peroxisome biogenesis disorder.

What condition is associated with PEX6 p.Pro451Thr (c.1350_1351delinsAA)?

PEX6 p.Pro451Thr (c.1350_1351delinsAA) is associated with peroxisome biogenesis disorder (ClinVar).

How common is PEX6 p.Pro451Thr (c.1350_1351delinsAA) in the general population?

PEX6 p.Pro451Thr (c.1350_1351delinsAA) is no gnomAD frequency available for this variant (gnomAD).

PEX6 p.Pro451Thr

c.1350_1351delinsAA · rs2481233328 · VCV2170597

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

peroxisome biogenesis disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 1.4, phastCons 1
Regional constraint	o/e 0.95	unconstrained · MANE · 10 kb · p 0.19 · regional, not allelic

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. 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: PEX6
Protein: p.Pro451Thr
Coding: c.1350_1351delinsAA
MANE Select: NM_000287
dbSNP: rs2481233328
Type: Indel
Location: chr6:42969684 (GRCh38)
Gene constraint: LOEUF 0.799 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 69.87

Full PEX6 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

peroxisome biogenesis disorder — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

PEX6 p.Pro451fs Pathogenic ★ same residue
PEX6 p.Pro451Ala Uncertain significance ★ ⚠ same residue
PEX6 p.Ala4fs Pathogenic/Likely pathogenic ★★ same condition
PEX6 p.Ile800fs Pathogenic ★★ same condition
PEX6 c.573_882+237delinsTGGTCA Pathogenic ★ same condition
PEX6 p.Arg812Gln Likely pathogenic ★ same condition
PEX6 p.Ala586Lys Uncertain significance ★ same condition
PEX6 p.Ala925Leu Uncertain significance ★ same condition

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/pex6-p-pro451thr (accessed [today's date]).

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