Is FABP2 p.Ile26Val (c.76A>G) pathogenic?

FABP2 p.Ile26Val (c.76A>G) is classified Likely benign in FABP2 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-05-27). AlphaMissense: likely benign (0.0595); Very rare (popmax 0.000514%, nfe).

How common is FABP2 p.Ile26Val (c.76A>G) in the general population?

FABP2 p.Ile26Val (c.76A>G) is very rare (popmax 0.000514%, nfe) (gnomAD).

What do computational predictors say about FABP2 p.Ile26Val (c.76A>G)?

AlphaMissense predicts likely benign (score 0.0595) — an in-silico prediction, not a clinical call.

FABP2 p.Ile26Val

c.76A>G · rs2545699598 · VCV2292753

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0595 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.000514%, nfe)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0595	likely benign
REVEL	0.047	moderately benign-leaning
SaProt	LLR -5.94	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 -20
Regional constraint	o/e 0.94	unconstrained · MANE · 3,058 bp · p 0.47 · regional, not allelic
Overall
CADD	0.001	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

Grpmax group 0.000514% European (non-Finnish) · 6/1,166,956 alleles

Filtering AF 0.000185% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000122%

Overall 0.000381% 6/1,573,310 alleles · very rare exomes 6/1,421,026 · genomes 0/152,284 · joint denominator

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: FABP2
Protein: p.Ile26Val
Coding: c.76A>G
MANE Select: NM_000134
dbSNP: rs2545699598
Type: single nucleotide variant
Location: chr4:119320834 (GRCh38)
Gene constraint: LOEUF 1.341 · pLI 0.16 (gnomAD)
Structure: AlphaFold pLDDT 91.26 · 7 PDB
Residue 26: an α-helix

Full FABP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

FABP2 c.68-148G>A Benign ★★ same type
FABP2 c.*15G>A Benign ★★ same type
FABP2 c.*252G>A Benign ★★ same type
FABP2 c.*65A>G Benign ★★ same type
FABP2 p.Asn72= Benign ★★ same type
FABP2 p.Thr55Ala Benign ★★ same type
FABP2 p.Val119= Benign ★★ same type
FABP2 p.Ala33Val 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/fabp2-p-ile26val (accessed [today's date]).

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