ACBD5 p.Lys154fs
c.460_461del · rs2540995231 · VCV2028352
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 5 of 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.4 | GERP -0.16, phastCons 0.99 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- ACBD5
- Protein
- p.Lys154fs
- Coding
- c.460_461del
- MANE Select
- NM_145698
- dbSNP
- rs2540995231
- Type
- Deletion
- Location
- chr10:27223367 (GRCh38)
- Gene constraint
- LOEUF 0.734 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 57.49 · 1 PDB
Similar variants
- ACBD5 p.Lys154Glu Likely benign ★ same residue
- ACBD5 c.937-1del Likely pathogenic ★ same type
- ACBD5 p.Arg24fs Pathogenic ★ same type
- ACBD5 p.Cys18fs Pathogenic ★ same type
- ACBD5 p.Leu4fs Pathogenic ★ same type
- ACBD5 p.Ser155fs Likely pathogenic ★ same type
- ACBD5 c.1455+20del Benign ★ same type
- ACBD5 c.1566-16del Benign ★ 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/acbd5-p-lys154fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown