CD68 p.Gln18=
c.54G>A · rs34474840 · VCV714727
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.01%, 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 -0.1 | GERP -0.93, phastCons 0.049 |
| Overall | ||
| CADD | 6.617 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.01%
African / African-American · 1,509/74,972 alleles
Filtering AF
1.93%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.89%
Overall
0.118%
1,909/1,612,770 alleles · low-frequency
exomes 1,072/1,460,526 · genomes 837/152,244 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.01% | 50 |
| Admixed American | 0.137% | 731 |
| Middle Eastern | 0.132% | 757 |
| Remaining individualsnot grpmax-eligible | 0.101% | 992 |
| European (non-Finnish) | 0.0209% | 4,793 |
| South Asian | 0.0011% | 90,986 |
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
- CD68
- Protein
- p.Gln18=
- Coding
- c.54G>A
- MANE Select
- NM_001251
- dbSNP
- rs34474840
- Type
- single nucleotide variant
- Location
- chr17:7579814 (GRCh38)
- Gene constraint
- LOEUF 1.013 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.23
Similar variants
- CD68 p.Gln18Arg Uncertain significance ★ ⚠ same residue
- CD68 p.Ile329Thr Benign ★★ same type
- CD68 p.Ala10Val Uncertain significance ★ ⚠ same type
- CD68 p.Ala262Thr Uncertain significance ★ ⚠ same type
- CD68 p.Ala269Val Uncertain significance ★ ⚠ same type
- CD68 p.Ala299Asp Uncertain significance ★ ⚠ same type
- CD68 p.Ala99Thr Uncertain significance ★ ⚠ same type
- CD68 p.Arg345Pro 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/cd68-p-gln18 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown