ABHD18 p.Arg31=
c.93A>G · VCV3786696
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0168%, mid)
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 1.4 | GERP -2.1, phastCons 1 |
| Overall | ||
| CADD | 12.18 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0168%
Middle Eastern · 1/5,956 alleles
Filtering AF
0.00387%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00348%
Overall
0.00388%
60/1,545,596 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0168% | 5,956 |
| European (non-Finnish) | 0.0049% | 20,394 |
| Remaining individualsnot grpmax-eligible | 0.00334% | 29,929 |
| East Asian | 0.00245% | 40,836 |
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
- ABHD18
- Protein
- p.Arg31=
- Coding
- c.93A>G
- MANE Select
- NM_001358451
- Type
- single nucleotide variant
- Location
- chr4:127984339 (GRCh38)
- Gene constraint
- LOEUF 1.028 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 80.82
Similar variants
- MFSD8 c.-100G>C Benign ★★ same type
- MFSD8 c.-75-215A>G Benign ★★ same type
- MFSD8 c.-75-333C>G Benign ★★ same type
- ABHD18 p.Ala136Asp Uncertain significance ★ ⚠ same type
- ABHD18 p.Ala439Thr Uncertain significance ★ ⚠ same type
- ABHD18 p.Ala78Thr Uncertain significance ★ ⚠ same type
- ABHD18 p.Arg11Gln Uncertain significance ★ ⚠ same type
- ABHD18 p.Arg11Trp 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/abhd18-p-arg31 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown