GAB1 p.Pro17=
c.51G>C · rs147010310 · VCV3052380
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.22%, afr)
Conditions
1
GAB1-related disorder
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 4.2 | GERP -1.9, phastCons 1 |
| Overall | ||
| CADD | 14.51 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.22%
African / African-American · 910/74,798 alleles
Filtering AF
1.15%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.12%
Overall
0.0678%
1,074/1,583,246 alleles · low-frequency
exomes 542/1,430,980 · genomes 532/152,266 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.22% | 82 |
| Admixed American | 0.155% | 645 |
| Remaining individualsnot grpmax-eligible | 0.0864% | 1,157 |
| Middle Eastern | 0.0498% | 2,009 |
| European (non-Finnish) | 0.00189% | 52,925 |
| South Asian | 0.00115% | 86,686 |
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
- GAB1
- Protein
- p.Pro17=
- Coding
- c.51G>C
- MANE Select
- NM_002039
- dbSNP
- rs147010310
- Type
- single nucleotide variant
- Location
- chr4:143337239 (GRCh38)
- Gene constraint
- LOEUF 0.503 · pLI 0.98 (gnomAD)
- Structure
- AlphaFold pLDDT 53.30 · 5 PDB
- Residue 17
- the ph domain
Disease context
GAB1-related disorder
Similar variants
- GAB1 p.Pro17Ser Uncertain significance ★ ⚠ same residue
- GAB1 p.His349= Likely benign same condition
- GAB1 p.Thr464= Likely benign same condition
- GAB1 p.Thr688= Likely benign same condition
- GAB1 c.1196-47G>A Benign ★★ same type
- GAB1 c.1586-139G>A Benign ★★ same type
- GAB1 c.1680-116A>G Benign ★★ same type
- GAB1 c.1680-54A>G 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/gab1-p-pro17 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown