GLUD1 p.Pro224=
c.672A>G · rs2539841497 · VCV1755111
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.3 | GERP -3.2 |
| Overall | ||
| CADD | 6.347 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- GLUD1
- Protein
- p.Pro224=
- Coding
- c.672A>G
- MANE Select
- NM_005271
- dbSNP
- rs2539841497
- Type
- single nucleotide variant
- Location
- chr10:87068132 (GRCh38)
- Gene constraint
- LOEUF 0.748 · pLI 0.02 (gnomAD)
- Structure
- AlphaFold pLDDT 90.75 · 7 PDB
Similar variants
- GLUD1 p.Asp375Asn Uncertain significance ★★ ⚠ same condition
- GLUD1 p.His139Tyr Uncertain significance ★★ ⚠ same condition
- GLUD1 p.His321Arg Uncertain significance ★★ ⚠ same condition
- GLUD1 p.Ser357Phe Uncertain significance ★★ ⚠ same condition
- GLUD1 p.Ser370Asn Uncertain significance ★★ ⚠ same condition
- GLUD1 p.Tyr367Cys Uncertain significance ★★ ⚠ same condition
- GLUD1 p.Ala210= Benign/Likely benign ★★ same condition
- GLUD1 p.Ala33= Likely benign ★★ 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/glud1-p-pro224 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown