Is EID3 p.Ala90Val (c.269C>T) pathogenic?

EID3 p.Ala90Val (c.269C>T) is classified Uncertain significance in EID3 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-06-13). AlphaMissense: likely pathogenic (0.7791); Very rare (popmax 0.00356%, nfe).

How common is EID3 p.Ala90Val (c.269C>T) in the general population?

EID3 p.Ala90Val (c.269C>T) is very rare (popmax 0.00356%, nfe) (gnomAD).

What do computational predictors say about EID3 p.Ala90Val (c.269C>T)?

AlphaMissense predicts likely pathogenic (score 0.7791) — an in-silico prediction, not a clinical call.

EID3 p.Ala90Val

c.269C>T · rs755027279 · VCV2520116

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.7791 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.00356%, nfe)

Missense predictors

2/2 damaging

AlphaMissense, SaProt · REVEL no call

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
AlphaMissense	0.7791	likely pathogenic
REVEL	0.33	indeterminate
SaProt	LLR -11.55	damaging
⇒ AlphaMissense and SaProt both call this damaging; REVEL makes no call.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 6.9	GERP 1.1, phastCons 1
Regional constraint	o/e 1.15	unconstrained · MANE · 998 bp · p 0.0026 · regional, not allelic
Overall
CADD	25.5	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean damaging — 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

Grpmax group 0.00356% European (non-Finnish) · 42/1,179,910 alleles

Filtering AF 0.00267% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00236%

Overall 0.0026% 42/1,613,946 alleles · very rare exomes 41/1,461,710 · genomes 1/152,236 · 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: EID3
Protein: p.Ala90Val
Coding: c.269C>T
MANE Select: NM_001008394
dbSNP: rs755027279
Type: single nucleotide variant
Location: chr12:104304203 (GRCh38)

Full EID3 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/eid3-p-ala90val (accessed [today's date]).

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