BCHE p.Gly143Asp
c.428G>A · rs201820739 · VCV344097
Computational evidence
| Protein change | ||
| AlphaMissense | 0.8171 | likely pathogenic ✓ concordant with ClinVar · top 8% in BCHE |
|---|---|---|
| REVEL | 0.977 | strongly pathogenic-leaning |
| SaProt | LLR -16.08 | damaging |
| ⇒ AlphaMissense, REVEL and SaProt all call this damaging. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 7.7 | GERP 2.4, phastCons 1 |
| Regional constraint | o/e 1.20 | unconstrained · MANE · 58 kb · p 1.8e-07 · regional, not allelic |
| Overall | ||
| CADD | 25.8 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Ashkenazi Jewishnot grpmax-eligible | 0.149% | 673 |
| European (non-Finnish)grpmax | 0.0385% | 2,599 |
| Remaining individualsnot grpmax-eligible | 0.0224% | 4,464 |
| Admixed American | 0.02% | 4,998 |
| African / African-American | 0.00533% | 18,758 |
| South Asian | 0.0011% | 91,092 |
Ashkenazi Jewish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.
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
- BCHE
- Protein
- p.Gly143Asp
- Coding
- c.428G>A
- MANE Select
- NM_000055
- dbSNP
- rs201820739
- Type
- single nucleotide variant
- Location
- chr3:165830606 (GRCh38)
- Gene constraint
- LOEUF 1.195 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 93.30 · 111 PDB
- Residue 143
- a UniProt-annotated variant site (in bched)
Disease context
butyrylcholinesterase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Hereditary butyrylcholinesterase deficiency (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy, Neonatal
- Prevalence
- 1-9 / 100 000 (Europe)
Similar variants
- BCHE p.Arg414Cys Pathogenic/Likely pathogenic ★★ ⚠ same condition
- BCHE p.Arg452Ter Pathogenic/Likely pathogenic ★★ same condition
- BCHE p.Asp98Gly Pathogenic/Likely pathogenic ★★ ⚠ same condition
- BCHE p.Glu377Ter Pathogenic/Likely pathogenic ★★ same condition
- BCHE p.Gly393Arg Pathogenic ★★ same condition
- BCHE p.Leu358Ile Pathogenic/Likely pathogenic ★★ ⚠ same condition
- BCHE p.Tyr528Ter Pathogenic/Likely pathogenic ★★ same condition
- BCHE p.Val170Met Likely pathogenic ★★ ⚠ same condition
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/bche-p-gly143asp (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown