GPR68 p.Phe45=
c.135C>T · rs150286185 · VCV3053617
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.549%, afr)
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 -0.8 | GERP -4.5 |
| Overall | ||
| CADD | 12.0 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.549%
African / African-American · 412/75,060 alleles
Filtering AF
0.505%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.488%
Overall
0.0295%
476/1,613,876 alleles · rare
exomes 241/1,461,552 · genomes 235/152,324 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.549% | 182 |
| Admixed American | 0.035% | 2,856 |
| Middle Eastern | 0.033% | 3,031 |
| Remaining individualsnot grpmax-eligible | 0.0272% | 3,675 |
| South Asian | 0.0022% | 45,504 |
| European (non-Finnish) | 0.00186% | 53,632 |
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.Phe45=
- Coding
- c.135C>T
- MANE Select
- NM_001177676
- dbSNP
- rs150286185
- Type
- single nucleotide variant
- Location
- chr14:91234916 (GRCh38)
- Gene constraint
- LOEUF 1.154 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.21 · 5 PDB
- Residue 45
- an α-helix
Disease context
GPR68-related disorder
Similar variants
- GPR68 p.Ala281= Likely benign same condition
- GPR68 p.Cys114= 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
- GPR68 p.Arg183= 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-phe45 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown