BCHE p.Phe146fs
c.435delinsAG · rs398124632 · VCV13216
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 4 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.7 | GERP -0.041, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- BCHE
- Protein
- p.Phe146fs
- Coding
- c.435delinsAG
- MANE Select
- NM_000055
- dbSNP
- rs398124632
- Type
- Indel
- Location
- chr3:165830599 (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 146
- a turn
Similar variants
- BCHE p.Arg414Cys Pathogenic/Likely pathogenic ★★ same condition
- BCHE p.Arg452Ter Pathogenic/Likely pathogenic ★★ same condition
- BCHE p.Asn173_Tyr174insTer Pathogenic/Likely pathogenic ★★ same condition
- BCHE p.Asp98Gly Pathogenic/Likely pathogenic ★★ same condition
- BCHE p.Glu377Ter Pathogenic/Likely pathogenic ★★ same condition
- BCHE p.Gly143Asp Pathogenic ★★ same condition
- BCHE p.Gly393Arg Pathogenic ★★ same condition
- BCHE p.Ile34fs 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-phe146fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown