ABHD2 p.Tyr400=
c.1200C>T · rs147741950 · VCV777877
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.42%, 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 -3.9 | GERP -5.1 |
| Overall | ||
| CADD | 6.758 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.42%
South Asian · 1,296/91,092 alleles
Filtering AF
1.36%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.33%
Overall
0.664%
10,715/1,614,196 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 1.42% | 70 |
| Middle Eastern | 1.04% | 96 |
| Ashkenazi Jewishnot grpmax-eligible | 0.855% | 117 |
| Remaining individualsnot grpmax-eligible | 0.704% | 142 |
| European (non-Finnish) | 0.675% | 148 |
| Finnishnot grpmax-eligible | 0.526% | 190 |
| Admixed American | 0.443% | 226 |
| African / African-American | 0.132% | 758 |
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
- ABHD2
- Protein
- p.Tyr400=
- Coding
- c.1200C>T
- MANE Select
- NM_152924
- dbSNP
- rs147741950
- Type
- single nucleotide variant
- Location
- chr15:89195345 (GRCh38)
- Gene constraint
- LOEUF 0.57 · pLI 0.55 (gnomAD)
- Structure
- AlphaFold pLDDT 91.06
Similar variants
- ABHD2 p.His312= Benign ★★ same type
- ABHD2 p.Val420= Benign ★★ same type
- ABHD2 p.Ala222Gly Uncertain significance ★ ⚠ same type
- ABHD2 p.Ala274Thr Uncertain significance ★ ⚠ same type
- ABHD2 p.Arg175Cys Uncertain significance ★ ⚠ same type
- ABHD2 p.Arg254Gln Uncertain significance ★ ⚠ same type
- ABHD2 p.Arg293Gln Uncertain significance ★ ⚠ same type
- ABHD2 p.Arg328Gln 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/abhd2-p-tyr400 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown