Is GABBR2 p.Ile826Val (c.2476A>G) pathogenic?

GABBR2 p.Ile826Val (c.2476A>G) is classified Uncertain significance in GABBR2 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-08-10). AlphaMissense: likely benign (0.082); Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with GABBR2 p.Ile826Val (c.2476A>G)?

GABBR2 p.Ile826Val (c.2476A>G) is associated with Inborn genetic diseases (ClinVar).

How common is GABBR2 p.Ile826Val (c.2476A>G) in the general population?

GABBR2 p.Ile826Val (c.2476A>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about GABBR2 p.Ile826Val (c.2476A>G)?

AlphaMissense predicts likely benign (score 0.082) — an in-silico prediction, not a clinical call.

GABBR2 p.Ile826Val

c.2476A>G · rs1014873104 · VCV2242358

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.082 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.082	likely benign
REVEL	0.245	benign-leaning
SaProt	LLR -6.17	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 5	GERP 2.1, phastCons 1
Regional constraint	o/e 0.78	unconstrained · MANE · 8,737 bp · p 0.0045 · regional, not allelic
Overall
CADD	21.5	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

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: GABBR2
Protein: p.Ile826Val
Coding: c.2476A>G
MANE Select: NM_005458
dbSNP: rs1014873104
Type: single nucleotide variant
Location: chr9:98299290 (GRCh38)
Gene constraint: LOEUF 0.394 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 78.00 · 26 PDB

Full GABBR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

GABBR2 p.Ile826Leu Likely benign ★ same residue
GABBR2 p.Ala570Thr Uncertain significance ★★ ⚠ same condition
GABBR2 p.Ala912Thr Uncertain significance ★★ ⚠ same condition
GABBR2 p.Arg197Cys Uncertain significance ★★ ⚠ same condition
GABBR2 p.Arg799Gln Uncertain significance ★★ same condition
GABBR2 p.Gln194His Uncertain significance ★★ ⚠ same condition
GABBR2 p.Glu320Gln Uncertain significance ★★ same condition
GABBR2 p.Gly671Ser 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/gabbr2-p-ile826val (accessed [today's date]).

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