ACSL1 p.Leu635=
c.1905C>T · rs74654630 · VCV717920
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 3.58%, eas)
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 -2.5 | GERP -4.1 |
| Overall | ||
| CADD | 1.057 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.58%
East Asian · 1,605/44,868 alleles
Filtering AF
3.43%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.37%
Overall
0.282%
4,553/1,613,976 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 3.58% | 28 |
| Finnishnot grpmax-eligible | 3.39% | 29 |
| Remaining individualsnot grpmax-eligible | 0.246% | 406 |
| South Asian | 0.143% | 701 |
| Middle Eastern | 0.0495% | 2,020 |
| European (non-Finnish) | 0.0406% | 2,463 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0236% | 4,229 |
| Admixed American | 0.00666% | 15,004 |
| African / African-American | 0.00267% | 37,502 |
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.Leu635=
- Coding
- c.1905C>T
- MANE Select
- NM_001995
- dbSNP
- rs74654630
- Type
- single nucleotide variant
- Location
- chr4:184757686 (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-leu635 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown