ACACB p.Phe2065=
c.6195C>T · rs1593718847 · VCV743524
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 1.8 | GERP -0.55, phastCons 1 |
| Overall | ||
| CADD | 11.6 | 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
- ACACB
- Protein
- p.Phe2065=
- Coding
- c.6195C>T
- MANE Select
- NM_001093
- dbSNP
- rs1593718847
- Type
- single nucleotide variant
- Location
- chr12:109256168 (GRCh38)
- Gene constraint
- LOEUF 0.843 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.29 · 11 PDB
- Residue 2065
- the coa carboxyltransferase c-terminal domain; the 'carboxyltransferase' region
Similar variants
- ACACB p.Val958Met Uncertain significance ★★ ⚠ same type
- ACACB c.6942+9C>T Benign ★★ same type
- ACACB c.6943-8G>A Benign ★★ same type
- ACACB c.7113+7C>T Benign/Likely benign ★★ same type
- ACACB p.Ala650= Likely benign ★★ same type
- ACACB p.Arg1786Gln Likely benign ★★ ⚠ same type
- ACACB p.Asp1481Val Benign/Likely benign ★★ ⚠ same type
- ACACB p.Gln1257Glu 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/acacb-p-phe2065 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown