Is EEF2 p.Ala731Thr (c.2191G>A) pathogenic?

EEF2 p.Ala731Thr (c.2191G>A) is classified Uncertain significance in EEF2 (ClinVar, Single submitter, 2 submitters; last evaluated 2024-07-25). AlphaMissense: likely pathogenic (0.9798); No allele count reported in gnomAD v4.1 (AN 1,589,732).

How common is EEF2 p.Ala731Thr (c.2191G>A) in the general population?

EEF2 p.Ala731Thr (c.2191G>A) is no allele count reported in gnomAD v4.1 (AN 1,589,732) (gnomAD).

What do computational predictors say about EEF2 p.Ala731Thr (c.2191G>A)?

AlphaMissense predicts likely pathogenic (score 0.9798) — an in-silico prediction, not a clinical call.

EEF2 p.Ala731Thr

c.2191G>A · rs2039692066 · VCV2662577

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

AlphaMissense

likely pathogenic

0.9798 · ACMG-weighted

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,589,732)

Missense predictors

2/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.9798	likely pathogenic
REVEL	0.268	benign-leaning
SaProt	LLR -13.64	damaging
⇒ AlphaMissense and SaProt call this damaging; REVEL does not.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 4	GERP 2.1, phastCons 1
Regional constraint	o/e 0.71	unconstrained · MANE · 1,578 bp · p 7.1e-09 · regional, not allelic
Overall
CADD	23.4	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

No allele count reported in gnomAD v4.1 (AN 1,589,732). 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: EEF2
Protein: p.Ala731Thr
Coding: c.2191G>A
dbSNP: rs2039692066
Type: single nucleotide variant
Location: chr19:3977487 (GRCh38)

Full EEF2 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/eef2-p-ala731thr (accessed [today's date]).

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