GABRA1 p.Pro384=
c.1152G>A · rs777957860 · VCV1119457
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00167%, amr)
Conditions
2
epilepsy, idiopathic generalized, susceptibility to, 13
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 -14 | GERP -3.8 |
| Overall | ||
| CADD | 0.446 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00167%
Admixed American · 1/59,974 alleles
Filtering AF
7.9e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 5.4e-05%
Overall
0.000434%
7/1,613,910 alleles · very rare
exomes 6/1,461,832 · genomes 1/152,078 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00167% | 59,974 |
| African / African-American | 0.00134% | 74,892 |
| South Asian | 0.0011% | 91,078 |
| European (non-Finnish) | 0.000339% | 295,003 |
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
- GABRA1
- Protein
- p.Pro384=
- Coding
- c.1152G>A
- MANE Select
- NM_001127644
- dbSNP
- rs777957860
- Type
- single nucleotide variant
- Location
- chr5:161897203 (GRCh38)
- Gene constraint
- LOEUF 0.282 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 82.21 · 88 PDB
Similar variants
- GABRA1 p.Pro384Arg Uncertain significance ★ ⚠ same residue
- GABRA1 p.Pro384Leu Likely benign ★ same residue
- GABRA1 c.256-2A>G Likely pathogenic ★★ same condition
- GABRA1 p.Arg147Gln Pathogenic/Likely pathogenic ★★ same condition
- GABRA1 p.Arg214Cys Pathogenic/Likely pathogenic ★★ same condition
- GABRA1 p.Arg214His Pathogenic/Likely pathogenic ★★ same condition
- GABRA1 p.Thr295Ile Likely pathogenic ★★ same condition
- GABRA1 p.Arg204His 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/gabra1-p-pro384 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown