ABHD11 p.Ser75=
c.225C>T · VCV3905280
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.306%, sas)
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 -0.29 | GERP -0.48 |
| Overall | ||
| CADD | 7.425 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.306%
South Asian · 278/90,952 alleles
Filtering AF
0.276%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.265%
Overall
0.0184%
297/1,612,768 alleles · rare
exomes 268/1,460,714 · genomes 29/152,054 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.306% | 327 |
| Remaining individualsnot grpmax-eligible | 0.0272% | 3,673 |
| European (non-Finnish) | 0.00017% | 589,664 |
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
- ABHD11
- Protein
- p.Ser75=
- Coding
- c.225C>T
- MANE Select
- NM_148912
- Type
- single nucleotide variant
- Location
- chr7:73738364 (GRCh38)
- Gene constraint
- LOEUF 1.194 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.41
Similar variants
- ABHD11 c.-18G>T Uncertain significance ★ ⚠ same type
- ABHD11 p.Ala154Thr Uncertain significance ★ ⚠ same type
- ABHD11 p.Ala181Thr Uncertain significance ★ ⚠ same type
- ABHD11 p.Ala193Val Uncertain significance ★ ⚠ same type
- ABHD11 p.Ala285Thr Uncertain significance ★ same type
- ABHD11 p.Ala7Pro Uncertain significance ★ ⚠ same type
- ABHD11 p.Ala81Val Uncertain significance ★ ⚠ same type
- ABHD11 p.Arg151Cys 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/abhd11-p-ser75 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown