ACSL6 p.Val56=
c.168G>C · rs939233922 · VCV3140142
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0117%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.56 | donor loss, 3 bp away · masked 0 · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.9 | GERP 2.8, phastCons 1 |
| Overall | ||
| CADD | 16.23 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0117%
Admixed American · 7/60,016 alleles
Filtering AF
0.00543%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0038%
Overall
0.000558%
9/1,614,118 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0117% | 8,574 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,242 |
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
- ACSL6
- Protein
- p.Val56=
- Coding
- c.168G>C
- MANE Select
- NM_001009185
- dbSNP
- rs939233922
- Type
- single nucleotide variant
- Location
- chr5:131994133 (GRCh38)
- Gene constraint
- LOEUF 0.584 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.15
Similar variants
- ACSL6 p.Ala418Ser Uncertain significance ★ ⚠ same type
- ACSL6 p.Ala507Val Uncertain significance ★ ⚠ same type
- ACSL6 p.Ala609Val Uncertain significance ★ ⚠ same type
- ACSL6 p.Arg122Cys Uncertain significance ★ ⚠ same type
- ACSL6 p.Arg122His Uncertain significance ★ ⚠ same type
- ACSL6 p.Arg182Gln Uncertain significance ★ ⚠ same type
- ACSL6 p.Arg212Cys Uncertain significance ★ ⚠ same type
- ACSL6 p.Arg336Lys 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/acsl6-p-val56 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown