GABRA2 p.Ser192=
c.576A>G · rs200053930 · VCV2186329
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00789%, nfe)
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 -0.78 | GERP -3.9, phastCons 0.009 |
| Overall | ||
| CADD | 8.193 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00789%
European (non-Finnish) · 93/1,178,058 alleles
Filtering AF
0.00657%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00609%
Overall
0.00577%
93/1,611,460 alleles · very rare
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
- GABRA2
- Protein
- p.Ser192=
- Coding
- c.576A>G
- MANE Select
- NM_000807
- dbSNP
- rs200053930
- Type
- single nucleotide variant
- Location
- chr4:46305695 (GRCh38)
- Gene constraint
- LOEUF 0.49 · pLI 0.98 (gnomAD)
- Structure
- AlphaFold pLDDT 83.71 · 15 PDB
- Residue 192
- a turn
Similar variants
- GABRA2 p.Ala332Val Pathogenic/Likely pathogenic ★★ same type
- GABRA2 p.Pro280Leu Pathogenic/Likely pathogenic ★★ same type
- GABRA2 p.Thr294Ile Pathogenic/Likely pathogenic ★★ same type
- GABRA2 c.1059+1G>A Uncertain significance ★★ same type
- GABRA2 c.1060-5643C>T Uncertain significance ★★ same type
- GABRA2 c.1060-5644A>G Uncertain significance ★★ same type
- GABRA2 p.Arg301Trp Uncertain significance ★★ ⚠ same type
- GABRA2 p.Arg56Trp Uncertain significance ★★ ⚠ 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/gabra2-p-ser192 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown