GLE1 p.Ser112=
c.336C>G · rs1467727552 · VCV991324
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,592,308)
Conditions
1
lethal arthrogryposis-anterior horn cell disease syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.2 | GERP -2.9 |
| Overall | ||
| CADD | 5.285 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,592,308). 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
- GLE1
- Protein
- p.Ser112=
- Coding
- c.336C>G
- MANE Select
- NM_001003722
- dbSNP
- rs1467727552
- Type
- single nucleotide variant
- Location
- chr9:128515543 (GRCh38)
- Gene constraint
- LOEUF 1.103 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.55 · 3 PDB
- Residue 112
- the 'disordered' region
Similar variants
- GLE1 c.1881+1G>T Likely pathogenic ★★ same condition
- GLE1 c.2029-1G>A Likely pathogenic ★★ same condition
- GLE1 c.433-10A>G Pathogenic ★★ same condition
- GLE1 p.Arg133Ter Pathogenic/Likely pathogenic ★★ same condition
- GLE1 p.Arg569His Pathogenic/Likely pathogenic ★★ same condition
- GLE1 p.Arg584Trp Pathogenic/Likely pathogenic ★★ ⚠ same condition
- GLE1 p.Gln81Ter Pathogenic/Likely pathogenic ★★ same condition
- GLE1 p.Trp150Ter Pathogenic/Likely pathogenic ★★ 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/gle1-p-ser112 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown