ACAP2 p.Asp27=
c.81T>C · rs113782604 · VCV785079
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.1%, afr)
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 6.1 | GERP 1.2, phastCons 1 |
| Overall | ||
| CADD | 12.67 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.1%
African / African-American · 75/74,994 alleles
Filtering AF
0.0817%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0751%
Overall
0.00682%
110/1,612,996 alleles · rare
exomes 77/1,460,650 · genomes 33/152,346 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.1% | 1,000 |
| Remaining individualsnot grpmax-eligible | 0.0368% | 2,715 |
| Middle Eastern | 0.033% | 3,028 |
| Admixed American | 0.00167% | 59,862 |
| South Asian | 0.0011% | 90,708 |
| European (non-Finnish) | 0.000678% | 147,452 |
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
- ACAP2
- Protein
- p.Asp27=
- Coding
- c.81T>C
- MANE Select
- NM_012287
- dbSNP
- rs113782604
- Type
- single nucleotide variant
- Location
- chr3:195392120 (GRCh38)
- Gene constraint
- LOEUF 0.47 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 81.71 · 1 PDB
- Residue 27
- the bar domain
Similar variants
- ACAP2 c.53+1G>A Uncertain significance ★ same type
- ACAP2 p.Arg167Gln Uncertain significance ★ ⚠ same type
- ACAP2 p.Arg226Gln Uncertain significance ★ ⚠ same type
- ACAP2 p.Arg287His Uncertain significance ★ ⚠ same type
- ACAP2 p.Arg404Gln Uncertain significance ★ ⚠ same type
- ACAP2 p.Arg755His Uncertain significance ★ ⚠ same type
- ACAP2 p.Asn265His Uncertain significance ★ ⚠ same type
- ACAP2 p.Asn265Ser 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/acap2-p-asp27 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown