GABBR1 p.Ser321=
c.963G>A · rs2127435245 · VCV2446655
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.66 | donor loss · deltas |
|---|---|---|
| Pangolin | Δ0.64 | gain · loss 0.53 · SpliceAI calls loss · independent |
| Constraint at this position | ||
| Conservation | phyloP 3.2 | GERP 1, phastCons 1 |
| Overall | ||
| CADD | 24.0 | 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
- GABBR1
- Protein
- p.Ser321=
- Coding
- c.963G>A
- MANE Select
- NM_001470
- dbSNP
- rs2127435245
- Type
- single nucleotide variant
- Location
- chr6:29623305 (GRCh38)
- Gene constraint
- LOEUF 0.378 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 84.48 · 24 PDB
- Residue 321
- an α-helix
Similar variants
- GABBR1 p.Ser321Leu Uncertain significance ★ ⚠ same residue
- GABBR1 p.Gly531Ser Pathogenic/Likely pathogenic ★★ same type
- GABBR1 p.Ala712Thr Uncertain significance ★★ ⚠ same type
- GABBR1 p.Ala726Val Uncertain significance ★★ ⚠ same type
- GABBR1 p.Arg13Cys Uncertain significance ★★ ⚠ same type
- GABBR1 p.Arg511Gly Uncertain significance ★★ ⚠ same type
- GABBR1 p.Ile754Val Uncertain significance ★★ ⚠ same type
- GABBR1 c.964-9C>T Likely benign ★★ same type
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/gabbr1-p-ser321 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown