ACHE p.Glu344=
c.1032G>A · rs17880119 · VCV768188
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.41%, 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 1.4 | phastCons 1 |
| Overall | ||
| CADD | 6.715 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.41%
African / African-American · 1,806/75,050 alleles
Filtering AF
2.31%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.28%
Overall
0.138%
2,230/1,614,050 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.41% | 42 |
| Middle Eastern | 0.297% | 337 |
| Remaining individualsnot grpmax-eligible | 0.232% | 431 |
| Admixed American | 0.168% | 594 |
| European (non-Finnish) | 0.0131% | 7,613 |
| South Asian | 0.00549% | 18,216 |
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
- ACHE
- Protein
- p.Glu344=
- Coding
- c.1032G>A
- MANE Select
- NM_000665
- dbSNP
- rs17880119
- Type
- single nucleotide variant
- Location
- chr7:100893201 (GRCh38)
- Gene constraint
- LOEUF 0.546 · pLI 0.81 (gnomAD)
- Structure
- AlphaFold pLDDT 93.04 · 81 PDB
- Residue 344
- an α-helix
Similar variants
- ACHE p.Arg34Gln Benign ★★ same type
- ACHE p.Gly89Glu Benign ★★ ⚠ same type
- ACHE p.Pro135Ala Likely benign ★★ ⚠ same type
- ACHE p.Pro441= Likely benign ★★ same type
- ACHE p.Thr269= Benign/Likely benign ★★ same type
- ACHE p.Ala14Thr Uncertain significance ★ ⚠ same type
- ACHE p.Ala256Thr Uncertain significance ★ ⚠ same type
- ACHE p.Ala408Gly 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/ache-p-glu344 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown