GABRE p.Pro332=
c.996G>A · rs141917924 · VCV916144
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0131%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · C>A here scores Δ0.33 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -3.8 | GERP -9.3 |
| Overall | ||
| CADD | 2.513 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0131%
Admixed American · 6/45,864 alleles
Filtering AF
0.00568%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00387%
Overall
0.00297%
36/1,210,278 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0131% | 7,644 |
| East Asian | 0.0118% | 8,443 |
| African / African-American | 0.00698% | 14,319 |
| Finnishnot grpmax-eligible | 0.00643% | 15,556 |
| Remaining individualsnot grpmax-eligible | 0.0042% | 23,801 |
| South Asian | 0.00352% | 28,418 |
| European (non-Finnish) | 0.00168% | 59,678 |
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
- GABRE
- Protein
- p.Pro332=
- Coding
- c.996G>A
- MANE Select
- NM_004961
- dbSNP
- rs141917924
- Type
- single nucleotide variant
- Location
- chrX:151955509 (GRCh38)
- Structure
- AlphaFold pLDDT 73.13
Similar variants
- GABRE p.Arg176His Uncertain significance ★★ ⚠ same type
- GABRE p.Asn134= Likely benign ★★ same type
- GABRE p.Glu435Asp Benign ★★ same type
- GABRE p.Gly62= Benign ★★ same type
- GABRE p.Leu323= Benign ★★ same type
- GABRE p.Ser102Ala Benign ★★ same type
- GABRE p.Ala193Gly Uncertain significance ★ ⚠ same type
- GABRE p.Ala193Thr 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/gabre-p-pro332 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown