ACSL1 p.Tyr44=
c.132C>T · rs145248794 · VCV2655208
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0635%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>T here scores Δ0.86 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.86 | GERP -3.8 |
| Overall | ||
| CADD | 9.482 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0635%
European (non-Finnish) · 749/1,179,776 alleles
Filtering AF
0.0596%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0581%
Overall
0.0502%
810/1,613,596 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0635% | 1,575 |
| Remaining individualsnot grpmax-eligible | 0.0592% | 1,689 |
| Middle Eastern | 0.033% | 3,031 |
| East Asian | 0.0156% | 6,411 |
| African / African-American | 0.008% | 12,502 |
| Finnishnot grpmax-eligible | 0.00625% | 16,001 |
| South Asian | 0.0044% | 22,735 |
| Admixed American | 0.00167% | 59,950 |
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
- ACSL1
- Protein
- p.Tyr44=
- Coding
- c.132C>T
- MANE Select
- NM_001995
- dbSNP
- rs145248794
- Type
- single nucleotide variant
- Location
- chr4:184803383 (GRCh38)
- Gene constraint
- LOEUF 0.555 · pLI 0.05 (gnomAD)
- Structure
- AlphaFold pLDDT 90.16
Similar variants
- ACSL1 p.Arg376Gln Uncertain significance ★★ ⚠ same type
- ACSL1 p.Gly506= Benign ★★ same type
- ACSL1 p.Ala145Val Uncertain significance ★ ⚠ same type
- ACSL1 p.Ala206Val Uncertain significance ★ ⚠ same type
- ACSL1 p.Ala257Thr Uncertain significance ★ ⚠ same type
- ACSL1 p.Ala435Thr Uncertain significance ★ ⚠ same type
- ACSL1 p.Ala448Val Uncertain significance ★ ⚠ same type
- ACSL1 p.Ala477Thr 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/acsl1-p-tyr44 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown