GPR68 p.Ala281=
c.843C>G · rs150575263 · VCV3055827
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.876%, nfe)
Conditions
1
GPR68-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 -1.9 | GERP -4.5 |
| Overall | ||
| CADD | 3.288 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.876%
European (non-Finnish) · 10,145/1,158,380 alleles
Filtering AF
0.862%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.856%
Overall
0.727%
11,339/1,560,188 alleles · rare
exomes 10,610/1,407,818 · genomes 729/152,370 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.876% | 114 |
| Remaining individualsnot grpmax-eligible | 0.749% | 134 |
| Admixed American | 0.714% | 140 |
| Middle Eastern | 0.565% | 177 |
| Ashkenazi Jewishnot grpmax-eligible | 0.256% | 390 |
| Finnishnot grpmax-eligible | 0.154% | 649 |
| African / African-American | 0.142% | 705 |
| South Asian | 0.0771% | 1,297 |
| East Asian | 0.00472% | 21,179 |
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.Ala281=
- Coding
- c.843C>G
- MANE Select
- NM_001177676
- dbSNP
- rs150575263
- Type
- single nucleotide variant
- Location
- chr14:91234208 (GRCh38)
- Gene constraint
- LOEUF 1.154 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.21 · 5 PDB
- Residue 281
- an α-helix
Disease context
GPR68-related disorder
Similar variants
- GPR68 p.Ala281Thr Uncertain significance ★ ⚠ same residue
- GPR68 p.Cys114= Likely benign same condition
- GPR68 p.Phe45= Likely benign same condition
- GPR68 p.Ser290= Likely benign same condition
- GPR68 p.Ser73= Likely benign same condition
- GPR68 p.Tyr120= Likely benign same condition
- GPR68 p.Val141= Likely benign same condition
- GPR68 p.Ala38= 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/gpr68-p-ala281 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown