ABHD8 p.Ala20=
c.60C>T · rs11086066 · VCV1296712
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 36.8%, sas) — too common for a highly-penetrant pathogenic allele
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 -7.1 | GERP -3.8 |
| Overall | ||
| CADD | 1.995 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
36.8%
South Asian · 33,282/90,426 alleles
Filtering AF
36.5%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 36.3%
Overall
29.3%
469,696/1,602,192 alleles · common
exomes 430,259/1,450,020 · genomes 39,437/152,172 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 36.8% | 3 |
| Amishnot grpmax-eligible | 33.6% | 3 |
| Finnishnot grpmax-eligible | 30.5% | 3 |
| European (non-Finnish) | 30.2% | 3 |
| Remaining individualsnot grpmax-eligible | 29.8% | 3 |
| Middle Eastern | 29.7% | 3 |
| Ashkenazi Jewishnot grpmax-eligible | 29.4% | 3 |
| Admixed American | 28.4% | 4 |
| African / African-American | 17.3% | 6 |
| East Asian | 9.82% | 10 |
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
- ABHD8
- Protein
- p.Ala20=
- Coding
- c.60C>T
- MANE Select
- NM_024527
- dbSNP
- rs11086066
- Type
- single nucleotide variant
- Location
- chr19:17301557 (GRCh38)
- Gene constraint
- LOEUF 0.664 · pLI 0.25 (gnomAD)
- Structure
- AlphaFold pLDDT 79.84
Similar variants
- ABHD8 p.Ala136Thr Uncertain significance ★ ⚠ same type
- ABHD8 p.Ala215Val Uncertain significance ★ ⚠ same type
- ABHD8 p.Ala218Val Uncertain significance ★ ⚠ same type
- ABHD8 p.Ala236Thr Uncertain significance ★ ⚠ same type
- ABHD8 p.Ala319Asp Uncertain significance ★ ⚠ same type
- ABHD8 p.Ala319Gly Uncertain significance ★ ⚠ same type
- ABHD8 p.Ala426Pro Uncertain significance ★ ⚠ same type
- ABHD8 p.Ala63Pro 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/abhd8-p-ala20 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown