AP1AR p.Val284=
c.852A>G · rs35163370 · VCV767972
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.73%, 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 -0.61 | GERP -3 |
| Overall | ||
| CADD | 1.053 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.73%
African / African-American · 1,300/74,974 alleles
Filtering AF
1.66%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.62%
Overall
0.0874%
1,410/1,612,460 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.73% | 58 |
| Admixed American | 0.0818% | 1,222 |
| Remaining individualsnot grpmax-eligible | 0.0785% | 1,274 |
| Middle Eastern | 0.033% | 3,027 |
| European (non-Finnish) | 0.000848% | 117,904 |
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
- AP1AR
- Protein
- p.Val284=
- Coding
- c.852A>G
- MANE Select
- NM_018569
- dbSNP
- rs35163370
- Type
- single nucleotide variant
- Location
- chr4:112268352 (GRCh38)
- Gene constraint
- LOEUF 1.048 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 66.16
Similar variants
- AP1AR p.Arg114His Uncertain significance ★ ⚠ same type
- AP1AR p.Arg123Gln Uncertain significance ★ ⚠ same type
- AP1AR p.Arg14Gly Uncertain significance ★ ⚠ same type
- AP1AR p.Arg302Gln Uncertain significance ★ ⚠ same type
- AP1AR p.Asp86Glu Uncertain significance ★ ⚠ same type
- AP1AR p.Asp86Gly Uncertain significance ★ ⚠ same type
- AP1AR p.Gln21Arg Uncertain significance ★ ⚠ same type
- AP1AR p.Gln92His 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/ap1ar-p-val284 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown