APOBEC4 p.Pro182=
c.546G>A · rs16861392 · VCV789700
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 9.31%, afr) — 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 -5.2 | GERP -4.5 |
| Overall | ||
| CADD | 0.383 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
9.31%
African / African-American · 6,982/75,006 alleles
Filtering AF
9.13%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 9.05%
Overall
0.484%
7,807/1,614,110 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 9.31% | 11 |
| Remaining individualsnot grpmax-eligible | 0.598% | 167 |
| Admixed American | 0.528% | 189 |
| Middle Eastern | 0.247% | 404 |
| Amishnot grpmax-eligible | 0.219% | 456 |
| South Asian | 0.0362% | 2,760 |
| European (non-Finnish) | 0.00712% | 14,048 |
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
- APOBEC4
- Protein
- p.Pro182=
- Coding
- c.546G>A
- MANE Select
- NM_203454
- dbSNP
- rs16861392
- Type
- single nucleotide variant
- Location
- chr1:183648236 (GRCh38)
- Gene constraint
- LOEUF 1.412 · pLI 0.52 (gnomAD)
- Structure
- AlphaFold pLDDT 71.60
Similar variants
- APOBEC4 p.Pro182Leu Uncertain significance ★ ⚠ same residue
- APOBEC4 p.Asn321Asp Benign ★★ same type
- APOBEC4 p.Ser196Cys Benign ★★ ⚠ same type
- APOBEC4 p.Ala231Asp Uncertain significance ★ ⚠ same type
- APOBEC4 p.Arg175Gln Uncertain significance ★ ⚠ same type
- APOBEC4 p.Arg175Trp Uncertain significance ★ ⚠ same type
- APOBEC4 p.Arg318Lys Uncertain significance ★ ⚠ same type
- APOBEC4 p.Arg335Ser 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/apobec4-p-pro182 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown