Is ERBIN p.Ile88Val (c.262A>G) pathogenic?

ERBIN p.Ile88Val (c.262A>G) is classified Likely benign in ERBIN (ClinVar, Multiple submitters, 3 submitters; last evaluated 2026-01-26). AlphaMissense: likely benign (0.1033); Rare (popmax 0.406%, afr).

How common is ERBIN p.Ile88Val (c.262A>G) in the general population?

ERBIN p.Ile88Val (c.262A>G) is rare (popmax 0.406%, afr) (gnomAD).

What do computational predictors say about ERBIN p.Ile88Val (c.262A>G)?

AlphaMissense predicts likely benign (score 0.1033) — an in-silico prediction, not a clinical call.

ERBIN p.Ile88Val

c.262A>G · rs34832453 · VCV1160746

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

AlphaMissense

likely benign

0.1033 · ACMG-weighted

gnomAD v4.1

Rare

rare (popmax 0.406%, afr)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.1033	likely benign
REVEL	0.224	benign-leaning
SaProt	LLR -7.45	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 8	GERP 7, phastCons 1
Regional constraint	o/e 0.84	unconstrained · MANE · 56 kb · p 1.4e-05 · regional, not allelic
Overall
CADD	23.7	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 0.406% African / African-American · 304/74,832 alleles

Filtering AF 0.369% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.354%

Overall 0.0199% 320/1,608,864 alleles · rare exomes 140/1,456,546 · genomes 180/152,318 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.406%	246
Admixed American	0.0102%	9,785
Remaining individualsnot grpmax-eligible	0.00803%	12,446
European (non-Finnish)	0.000424%	235,711

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: ERBIN
Protein: p.Ile88Val
Coding: c.262A>G
MANE Select: NM_001253697
dbSNP: rs34832453
Type: single nucleotide variant
Location: chr5:65994819 (GRCh38)
Gene constraint: LOEUF 0.526 · pLI 0.72 (gnomAD)
Structure: AlphaFold pLDDT 56.01 · 11 PDB

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

Similar variants

ERBIN p.Ala942Val Uncertain significance ★★ ⚠ same type
ERBIN p.Arg1096Gln Uncertain significance ★★ ⚠ same type
ERBIN p.Arg1166Gln Uncertain significance ★★ ⚠ same type
ERBIN p.Asn1035Ser Uncertain significance ★★ ⚠ same type
ERBIN p.Asn650Ser Uncertain significance ★★ ⚠ same type
ERBIN p.Asp530Tyr Uncertain significance ★★ ⚠ same type
ERBIN p.Cys658Ser Uncertain significance ★★ ⚠ same type
ERBIN p.His521Arg 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/erbin-p-ile88val (accessed [today's date]).

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