GPR35 p.Ala41=
c.123G>C · rs61734451 · VCV790442
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.76%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -7.3 | GERP -3.6 |
| Overall | ||
| CADD | 0.138 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.76%
European (non-Finnish) · 20,783/1,179,930 alleles
Filtering AF
1.74%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.73%
Overall
1.43%
23,052/1,611,404 alleles · low-frequency
exomes 21,622/1,459,070 · genomes 1,430/152,334 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 1.76% | 57 |
| Remaining individualsnot grpmax-eligible | 1.23% | 81 |
| Admixed American | 0.676% | 148 |
| Finnishnot grpmax-eligible | 0.572% | 175 |
| South Asian | 0.492% | 203 |
| Middle Eastern | 0.281% | 356 |
| African / African-American | 0.273% | 366 |
| Ashkenazi Jewishnot grpmax-eligible | 0.24% | 417 |
| East Asian | 0.00223% | 44,878 |
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
- GPR35
- Protein
- p.Ala41=
- Coding
- c.123G>C
- MANE Select
- NM_005301
- dbSNP
- rs61734451
- Type
- single nucleotide variant
- Location
- chr2:240630075 (GRCh38)
- Gene constraint
- LOEUF 1.893 · pLI 0.16 (gnomAD)
- Structure
- AlphaFold pLDDT 84.62 · 1 PDB
- Residue 41
- an α-helix
Similar variants
- GPR35 p.Ala25Thr Benign ★★ same type
- GPR35 p.Ala286= Benign/Likely benign ★★ same type
- GPR35 p.Arg100= Benign/Likely benign ★★ same type
- GPR35 p.Arg56Cys Benign ★★ ⚠ same type
- GPR35 p.Asn169Asp Likely benign ★★ same type
- GPR35 p.Asn222= Benign/Likely benign ★★ same type
- GPR35 p.Asn246= Benign ★★ same type
- GPR35 p.Gly126Arg 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/gpr35-p-ala41 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown