ACSL4 p.Ser311=
c.933C>T · rs767499190 · VCV792939
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0353%, amr)
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 3.4 | GERP 0.76, phastCons 1 |
| Overall | ||
| CADD | 14.36 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0353%
Admixed American · 16/45,348 alleles
Filtering AF
0.0221%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.018%
Overall
0.00149%
16/1,071,302 alleles · ultra-rare
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
- ACSL4
- Protein
- p.Ser311=
- Coding
- c.933C>T
- MANE Select
- NM_001318510
- dbSNP
- rs767499190
- Type
- single nucleotide variant
- Location
- chrX:109674471 (GRCh38)
- Structure
- AlphaFold pLDDT 90.46
Similar variants
- ACSL4 p.Arg631Gln Uncertain significance ★★ ⚠ same type
- ACSL4 p.Asn95Asp Uncertain significance ★★ ⚠ same type
- ACSL4 p.Asn95Ser Uncertain significance ★★ ⚠ same type
- ACSL4 p.Asp521Asn Uncertain significance ★★ same type
- ACSL4 p.His150Leu Uncertain significance ★★ ⚠ same type
- ACSL4 p.His23Arg Uncertain significance ★★ ⚠ same type
- ACSL4 p.Lys271Arg Uncertain significance ★★ ⚠ same type
- ACSL4 p.Lys388Arg 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/acsl4-p-ser311 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown