Is EEF2 p.Glu317Arg (c.949_950delinsAG) pathogenic?

EEF2 p.Glu317Arg (c.949950delinsAG) is classified Uncertain significance in EEF2 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-07-28). Absent from gnomAD; Associated with spinocerebellar ataxia type 26.

What condition is associated with EEF2 p.Glu317Arg (c.949_950delinsAG)?

EEF2 p.Glu317Arg (c.949_950delinsAG) is associated with spinocerebellar ataxia type 26 (ClinVar).

How common is EEF2 p.Glu317Arg (c.949_950delinsAG) in the general population?

EEF2 p.Glu317Arg (c.949_950delinsAG) is absent from gnomAD (gnomAD).

How is Spinocerebellar ataxia type 26 inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

EEF2 p.Glu317Arg

c.949_950delinsAG · rs2145362551 · VCV1696627

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

spinocerebellar ataxia type 26

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 6.2	GERP 2.2, phastCons 1
Regional constraint	o/e 1.11	unconstrained · MANE · 1,418 bp · p 0.16 · regional, not allelic

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. 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.Glu317Arg
Coding: c.949_950delinsAG
MANE Select: NM_001961
dbSNP: rs2145362551
Type: Indel
Location: chr19:3981400 (GRCh38)
Gene constraint: LOEUF 0.39 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 89.97 · 26 PDB
Residue 317: the tr-type g domain; an α-helix

Full EEF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

spinocerebellar ataxia type 26 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Spinocerebellar ataxia type 26 (Orphanet):

Inheritance: Autosomal dominant
Onset: Adult

Similar variants

EEF2 c.1150+15T>C Benign ★★ same condition
EEF2 p.His544= Benign ★★ same condition
EEF2 p.Pro596His Pathogenic ★ same condition
EEF2 p.Ala148fs Uncertain significance ★ same condition
EEF2 p.Asn600Lys Uncertain significance ★ ⚠ same condition
EEF2 p.Asn660Ser Uncertain significance ★ same condition
EEF2 p.Leu155Met Uncertain significance ★ same condition
EEF2 p.Met453Ile 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/eef2-p-glu317arg (accessed [today's date]).

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