ADIPOR1 p.Phe334=
c.1002C>T · rs144099149 · VCV1083266
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0148%, 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 5.2 | GERP 0.8, phastCons 1 |
| Overall | ||
| CADD | 12.44 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0148%
African / African-American · 11/74,354 alleles
Filtering AF
0.00821%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00638%
Overall
0.00087%
14/1,609,416 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0148% | 6,759 |
| Admixed American | 0.00342% | 29,267 |
| Remaining individualsnot grpmax-eligible | 0.00161% | 62,250 |
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
- ADIPOR1
- Protein
- p.Phe334=
- Coding
- c.1002C>T
- MANE Select
- NM_015999
- dbSNP
- rs144099149
- Type
- single nucleotide variant
- Location
- chr1:202941699 (GRCh38)
- Gene constraint
- LOEUF 0.571 · pLI 0.78 (gnomAD)
- Structure
- AlphaFold pLDDT 83.95 · 3 PDB
- Residue 334
- a β-strand
Similar variants
- ADIPOR1 p.Ala288Thr Uncertain significance ★★ ⚠ same type
- ADIPOR1 p.Ala319Thr Uncertain significance ★★ ⚠ same type
- ADIPOR1 p.Ala43Val Uncertain significance ★★ ⚠ same type
- ADIPOR1 p.Ala76Thr Uncertain significance ★★ ⚠ same type
- ADIPOR1 p.Arg257Gln Uncertain significance ★★ ⚠ same type
- ADIPOR1 p.Gln233Arg Uncertain significance ★★ ⚠ same type
- ADIPOR1 p.Gln72Arg Uncertain significance ★★ ⚠ same type
- ADIPOR1 p.Leu30Met 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/adipor1-p-phe334 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown