GPR132 p.Ser243=
c.729G>A · rs61739168 · VCV768681
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.19%, afr)
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 -6.2 | GERP -5 |
| Overall | ||
| CADD | 1.021 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.19%
African / African-American · 2,392/75,040 alleles
Filtering AF
3.08%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.04%
Overall
0.169%
2,735/1,614,142 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.19% | 31 |
| Admixed American | 0.203% | 492 |
| Remaining individualsnot grpmax-eligible | 0.198% | 504 |
| Middle Eastern | 0.0825% | 1,212 |
| South Asian | 0.011% | 9,109 |
| European (non-Finnish) | 0.00686% | 14,568 |
| Finnishnot grpmax-eligible | 0.00156% | 63,990 |
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
- GPR132
- Protein
- p.Ser243=
- Coding
- c.729G>A
- MANE Select
- NM_013345
- dbSNP
- rs61739168
- Type
- single nucleotide variant
- Location
- chr14:105051408 (GRCh38)
- Gene constraint
- LOEUF 1.905 · pLI 0.07 (gnomAD)
- Structure
- AlphaFold pLDDT 79.86 · 4 PDB
- Residue 243
- an α-helix
Similar variants
- GPR132 p.Ala352Ser Benign ★★ same type
- GPR132 p.Leu169= Benign ★★ same type
- GPR132 p.Ala159Thr Uncertain significance ★ ⚠ same type
- GPR132 p.Ala164Ser Uncertain significance ★ ⚠ same type
- GPR132 p.Ala164Thr Uncertain significance ★ ⚠ same type
- GPR132 p.Ala256Pro Uncertain significance ★ ⚠ same type
- GPR132 p.Ala256Val Uncertain significance ★ ⚠ same type
- GPR132 p.Ala267Gly 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/gpr132-p-ser243 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown