ACBD5 p.Ala50=
c.150C>G · rs139249547 · VCV712489
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.599%, 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 -3 | GERP -3.4 |
| Overall | ||
| CADD | 4.006 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.599%
African / African-American · 449/74,970 alleles
Filtering AF
0.553%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.535%
Overall
0.0303%
489/1,613,986 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.599% | 167 |
| Middle Eastern | 0.0495% | 2,021 |
| Admixed American | 0.0283% | 3,529 |
| Remaining individualsnot grpmax-eligible | 0.0272% | 3,677 |
| European (non-Finnish) | 0.000254% | 393,334 |
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.Ala50=
- Coding
- c.150C>G
- MANE Select
- NM_145698
- dbSNP
- rs139249547
- Type
- single nucleotide variant
- Location
- chr10:27240350 (GRCh38)
- Gene constraint
- LOEUF 0.734 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 57.49 · 1 PDB
- Residue 50
- the acb domain; an α-helix
Similar variants
- ACBD5 p.Arg433Ter Pathogenic/Likely pathogenic ★★ same type
- ACBD5 p.Ala182Thr Uncertain significance ★★ ⚠ same type
- ACBD5 p.Arg384Trp Uncertain significance ★★ ⚠ same type
- ACBD5 p.Arg415Trp Uncertain significance ★★ ⚠ same type
- ACBD5 p.Asp429Asn Uncertain significance ★★ ⚠ same type
- ACBD5 p.Gln452His Uncertain significance ★★ ⚠ same type
- ACBD5 p.Glu312Lys Uncertain significance ★★ ⚠ same type
- ACBD5 p.Glu493Lys 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/acbd5-p-ala50 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown