BCHE p.Val307=
c.921T>G · VCV4964851
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 3.6 | GERP -1.2, phastCons 0.97 |
| Overall | ||
| CADD | 1.384 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- BCHE
- Protein
- p.Val307=
- Coding
- c.921T>G
- MANE Select
- NM_000055
- Type
- single nucleotide variant
- Location
- chr3:165830113 (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 307
- an α-helix
Similar variants
- BCHE p.Val307Leu Uncertain significance ★ ⚠ same residue
- BCHE p.Arg414Cys Pathogenic/Likely pathogenic ★★ same type
- BCHE p.Arg452Ter Pathogenic/Likely pathogenic ★★ same type
- BCHE p.Asp98Gly Pathogenic/Likely pathogenic ★★ same type
- BCHE p.Glu377Ter Pathogenic/Likely pathogenic ★★ same type
- BCHE p.Gly143Asp Pathogenic ★★ same type
- BCHE p.Gly393Arg Pathogenic ★★ same type
- BCHE p.Leu358Ile Pathogenic/Likely pathogenic ★★ ⚠ 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/bche-p-val307 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown