ACSL5 p.Ala236=
c.708T>A · rs375242295 · VCV3024818
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00432%, nfe)
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 -1.7 | GERP -5.3 |
| Overall | ||
| CADD | 6.409 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00432%
European (non-Finnish) · 51/1,179,876 alleles
Filtering AF
0.00334%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00302%
Overall
0.00322%
52/1,613,864 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00432% | 23,135 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,478 |
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
- ACSL5
- Protein
- p.Ala236=
- Coding
- c.708T>A
- MANE Select
- NM_203379
- dbSNP
- rs375242295
- Type
- single nucleotide variant
- Location
- chr10:112409682 (GRCh38)
- Gene constraint
- LOEUF 0.702 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.55
Similar variants
- ACSL5 p.Leu377= Benign ★★ same type
- ACSL5 p.Pro40His Benign ★★ ⚠ same type
- ACSL5 p.Thr486Ala Benign ★★ same type
- ACSL5 c.-30+2050C>G Uncertain significance ★ same type
- ACSL5 c.-30+2076C>A Uncertain significance ★ same type
- ACSL5 c.-30+2100G>C Uncertain significance ★ same type
- ACSL5 c.-30+2128C>T Uncertain significance ★ same type
- ACSL5 c.-30+2164G>T 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/acsl5-p-ala236 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown