CYP4F22 p.Arg44=
c.132G>A · rs775636292 · VCV753677
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.02%, amr)
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 -0.86 | GERP -2.8 |
| Overall | ||
| CADD | 0.368 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.02%
Admixed American · 12/60,000 alleles
Filtering AF
0.0115%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00898%
Overall
0.000805%
13/1,613,924 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.02% | 5,000 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,482 |
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
- CYP4F22
- Protein
- p.Arg44=
- Coding
- c.132G>A
- MANE Select
- NM_173483
- dbSNP
- rs775636292
- Type
- single nucleotide variant
- Location
- chr19:15525468 (GRCh38)
- Gene constraint
- LOEUF 0.766 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 93.59
Similar variants
- CYP4F22 c.223-10C>G Likely pathogenic ★★ same type
- CYP4F22 c.940-1G>A Likely pathogenic ★★ same type
- CYP4F22 p.Arg156Cys Pathogenic ★★ same type
- CYP4F22 p.Arg243Cys Pathogenic/Likely pathogenic ★★ same type
- CYP4F22 p.Arg243His Pathogenic ★★ same type
- CYP4F22 p.Arg326Ter Pathogenic ★★ same type
- CYP4F22 p.Arg362Gln Pathogenic/Likely pathogenic ★★ ⚠ same type
- CYP4F22 p.Arg362Ter Pathogenic ★★ 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/cyp4f22-p-arg44 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown