GPR68 p.Ala124=
c.372C>A · rs141731950 · VCV3034602
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.132%, 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 0.26 | GERP -4.5, phastCons 0.94 |
| Overall | ||
| CADD | 7.782 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.132%
European (non-Finnish) · 1,561/1,180,024 alleles
Filtering AF
0.127%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.125%
Overall
0.105%
1,697/1,614,058 alleles · rare
exomes 1,593/1,461,708 · genomes 104/152,350 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.132% | 756 |
| Remaining individualsnot grpmax-eligible | 0.104% | 962 |
| Admixed American | 0.09% | 1,112 |
| African / African-American | 0.0213% | 4,692 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,604 |
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
- GPR68
- Protein
- p.Ala124=
- Coding
- c.372C>A
- MANE Select
- NM_001177676
- dbSNP
- rs141731950
- Type
- single nucleotide variant
- Location
- chr14:91234679 (GRCh38)
- Gene constraint
- LOEUF 1.154 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.21 · 5 PDB
- Residue 124
- an α-helix
Similar variants
- GPR68 p.Ala38= Benign ★★ same type
- GPR68 p.Arg183= Benign ★★ same type
- GPR68 p.Lys330Asn Likely benign ★★ same type
- GPR68 p.Ala138Thr Uncertain significance ★ ⚠ same type
- GPR68 p.Ala180Glu Uncertain significance ★ ⚠ same type
- GPR68 p.Ala180Val Uncertain significance ★ ⚠ same type
- GPR68 p.Ala211Thr Uncertain significance ★ ⚠ same type
- GPR68 p.Ala211Val 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/gpr68-p-ala124 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown