GRM5 p.Gln63=
c.189G>A · rs79165784 · VCV779310
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.69%, 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 0.57 | GERP 4.7, phastCons 1 |
| Overall | ||
| CADD | 7.42 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.69%
African / African-American · 3,518/75,016 alleles
Filtering AF
4.56%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.51%
Overall
0.254%
4,102/1,614,118 alleles · low-frequency
exomes 1,981/1,461,840 · genomes 2,121/152,278 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 4.69% | 21 |
| Admixed American | 0.507% | 197 |
| Remaining individualsnot grpmax-eligible | 0.334% | 299 |
| Middle Eastern | 0.066% | 1,516 |
| European (non-Finnish) | 0.00542% | 18,437 |
| South Asian | 0.00329% | 30,361 |
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
- GRM5
- Protein
- p.Gln63=
- Coding
- c.189G>A
- MANE Select
- NM_001143831
- dbSNP
- rs79165784
- Type
- single nucleotide variant
- Location
- chr11:89047684 (GRCh38)
- Gene constraint
- LOEUF 0.43 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 72.16 · 30 PDB
- Residue 63
- an α-helix
Similar variants
- GRM5 c.1691-4G>T Likely benign ★★ same type
- GRM5 p.Arg925= Likely benign ★★ same type
- GRM5 p.Asn402= Benign ★★ same type
- GRM5 p.Gly926= Benign ★★ same type
- GRM5 p.Gly978Ser Benign ★★ same type
- GRM5 p.Lys396= Benign ★★ same type
- GRM5 p.Lys678= Benign/Likely benign ★★ same type
- GRM5 p.Thr219= 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/grm5-p-gln63 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown