ACSL6 p.Pro78=
c.234G>A · rs140760107 · VCV768031
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.89%, 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 -6.8 | GERP -5.5 |
| Overall | ||
| CADD | 2.87 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.89%
African / African-American · 1,420/75,052 alleles
Filtering AF
1.81%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.78%
Overall
0.147%
2,379/1,614,072 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.89% | 53 |
| Ashkenazi Jewishnot grpmax-eligible | 0.662% | 151 |
| Middle Eastern | 0.352% | 284 |
| Remaining individualsnot grpmax-eligible | 0.277% | 361 |
| Admixed American | 0.242% | 414 |
| South Asian | 0.232% | 432 |
| European (non-Finnish) | 0.018% | 5,566 |
| East Asian | 0.00223% | 44,874 |
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.Pro78=
- Coding
- c.234G>A
- MANE Select
- NM_001009185
- dbSNP
- rs140760107
- Type
- single nucleotide variant
- Location
- chr5:131994067 (GRCh38)
- Gene constraint
- LOEUF 0.584 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.15
Similar variants
- ACSL6 p.Pro78Leu Uncertain significance ★ ⚠ same residue
- 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
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-pro78 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown