GABRG2 p.Phe151=
c.453C>T · rs1283855507 · VCV2942908
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0011%, sas)
Conditions
2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
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 2.2 | GERP 2.1, phastCons 1 |
| Overall | ||
| CADD | 12.07 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0011%
South Asian · 1/91,072 alleles
Overall
6.2e-05%
1/1,613,830 alleles · very rare
exomes 1/1,461,656 · genomes 0/152,174 · joint denominator
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
- GABRG2
- Protein
- p.Phe151=
- Coding
- c.453C>T
- MANE Select
- NM_198904
- dbSNP
- rs1283855507
- Type
- single nucleotide variant
- Location
- chr5:162097763 (GRCh38)
- Gene constraint
- LOEUF 0.428 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 77.41 · 84 PDB
- Residue 151
- a β-strand
Similar variants
- GABRG2 p.Phe151Val Uncertain significance ★ ⚠ same residue
- GABRG2 p.Phe151fs Pathogenic ★★ same residue
- GABRG2 c.259+1G>A Pathogenic/Likely pathogenic ★★ same condition
- GABRG2 p.Ala106Thr Pathogenic/Likely pathogenic ★★ ⚠ same condition
- GABRG2 p.Arg136Ter Pathogenic ★★ same condition
- GABRG2 p.Arg177Ter Pathogenic/Likely pathogenic ★★ same condition
- GABRG2 p.Arg224Ter Pathogenic/Likely pathogenic ★★ same condition
- GABRG2 p.Arg323Gln 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/gabrg2-p-phe151 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown