ABHD12 p.Lys191=
c.573G>A · rs770467212 · VCV1491720
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00246%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.20 | acceptor loss · deltas |
|---|---|---|
| Pangolin | Δ0.23 | loss · gain 0.00 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 5.9 | GERP 2.1, phastCons 1 |
| Overall | ||
| CADD | 23.5 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00246%
European (non-Finnish) · 29/1,179,624 alleles
Filtering AF
0.00172%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00149%
Overall
0.00205%
30/1,460,724 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00246% | 40,677 |
| Admixed American | 0.00167% | 60,006 |
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.Lys191=
- Coding
- c.573G>A
- MANE Select
- NM_001042472
- dbSNP
- rs770467212
- Type
- single nucleotide variant
- Location
- chr20:25317048 (GRCh38)
- Gene constraint
- LOEUF 0.967 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 85.60
- Residue 191
- a UniProt-annotated variant site (in pharc); a UniProt-annotated variant site (in pharc; uncertain significance)
Similar variants
- ABHD12 p.Lys191Arg Uncertain significance ★★ ⚠ same residue
- ABHD12 p.Lys191Glu Uncertain significance ★ ⚠ same residue
- ABHD12 c.1029+1G>T Likely pathogenic ★★ same type
- ABHD12 p.Arg262Ter Pathogenic ★★ same type
- ABHD12 p.Arg292Ter Pathogenic/Likely pathogenic ★★ same type
- ABHD12 p.Arg352Ter Pathogenic ★★ same type
- ABHD12 p.Arg355Ter Pathogenic ★★ same type
- ABHD12 c.620-3C>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/abhd12-p-lys191 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown