GRID1 p.Ile26=
c.78C>A · rs61856638 · VCV3053413
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.271%, afr)
Conditions
1
GRID1-related disorder
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 2.1 | GERP 0.58, phastCons 1 |
| Overall | ||
| CADD | 16.03 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.271%
African / African-American · 186/68,632 alleles
Filtering AF
0.239%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.227%
Overall
0.013%
195/1,494,744 alleles · rare
exomes 92/1,343,316 · genomes 103/151,428 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.271% | 369 |
| Remaining individualsnot grpmax-eligible | 0.007% | 14,282 |
| Admixed American | 0.00637% | 15,697 |
| European (non-Finnish) | 0.000179% | 559,397 |
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
- GRID1
- Protein
- p.Ile26=
- Coding
- c.78C>A
- MANE Select
- NM_017551
- dbSNP
- rs61856638
- Type
- single nucleotide variant
- Location
- chr10:86366315 (GRCh38)
- Gene constraint
- LOEUF 0.4 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 75.52 · 3 PDB
- Residue 26
- the 'interaction with cbln1' region
Disease context
GRID1-related disorder
Similar variants
- GRID1 p.Ala127Thr Uncertain significance ★★ ⚠ same condition
- GRID1 p.Ala603Asp Uncertain significance ★★ ⚠ same condition
- GRID1 p.Arg221Gln Uncertain significance ★★ ⚠ same condition
- GRID1 p.Arg384Gln Uncertain significance ★★ ⚠ same condition
- GRID1 p.Asp307Asn Uncertain significance ★★ ⚠ same condition
- GRID1 p.Gly716Arg Uncertain significance ★★ ⚠ same condition
- GRID1 p.Pro120Gln Uncertain significance ★★ ⚠ same condition
- GRID1 p.Thr604Ile 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/grid1-p-ile26 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown