COMT p.Gln170=
c.510G>A · rs79048885 · VCV747102
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.44%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.034 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.32 | GERP -3.5, phastCons 0.014 |
| Overall | ||
| CADD | 0.827 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.44%
Admixed American · 264/60,030 alleles
Filtering AF
0.396%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.379%
Overall
0.0166%
268/1,614,142 alleles · rare
exomes 250/1,461,802 · genomes 18/152,340 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.44% | 227 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,256 |
| African / African-American | 0.00133% | 75,048 |
| European (non-Finnish) | 8.47e-05% | 1,180,048 |
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
- COMT
- Protein
- p.Gln170=
- Coding
- c.510G>A
- MANE Select
- NM_000754
- dbSNP
- rs79048885
- Type
- single nucleotide variant
- Location
- chr22:19964194 (GRCh38)
- Gene constraint
- LOEUF 1.128 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.07 · 12 PDB
- Residue 170
- an α-helix; a binding site
Similar variants
- TXNRD2 p.Ala5Val Uncertain significance ★★ same type
- TXNRD2 p.Ala7Gly Uncertain significance ★★ same type
- TXNRD2 p.Ala7Val Uncertain significance ★★ same type
- TXNRD2 p.Arg9Pro Uncertain significance ★★ same type
- TXNRD2 p.Gly10Ala Uncertain significance ★★ same type
- TXNRD2 p.Gly10Val Uncertain significance ★★ same type
- TXNRD2 p.Leu8Val Uncertain significance ★★ same type
- TXNRD2 p.Met1Thr 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/comt-p-gln170 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown