ABHD12 p.Val144=
c.432C>G · rs1341064787 · VCV3043530
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00223%, eas)
Conditions
1
ABHD12-related disorder
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 2.1 | GERP -4.2, phastCons 1 |
| Overall | ||
| CADD | 2.631 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00223%
East Asian · 1/44,880 alleles
Overall
6.84e-05%
1/1,461,504 alleles · very 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
- ABHD12
- Protein
- p.Val144=
- Coding
- c.432C>G
- MANE Select
- NM_001042472
- dbSNP
- rs1341064787
- Type
- single nucleotide variant
- Location
- chr20:25320309 (GRCh38)
- Gene constraint
- LOEUF 0.967 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 85.60
- Residue 144
- a UniProt-annotated variant site (in pharc)
Disease context
ABHD12-related disorder
Similar variants
- ABHD12 p.Val144Ile Uncertain significance ★★ ⚠ same residue
- ABHD12 p.Arg262Ter Pathogenic ★★ same condition
- ABHD12 p.Arg352Ter Pathogenic ★★ same condition
- ABHD12 p.Arg355Ter Pathogenic ★★ same condition
- ABHD12 c.1157+1G>A Likely pathogenic ★ same condition
- ABHD12 c.316+1G>A Likely pathogenic ★ same condition
- ABHD12 p.Ala252Val Likely pathogenic ★ ⚠ same condition
- ABHD12 p.Arg65Ter Pathogenic ★ same condition
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/abhd12-p-val144 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown