CYP4F22 p.Lys296=
c.888G>A · rs1971448761 · VCV1933832
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 2.1 | phastCons 1 |
| Overall | ||
| CADD | 5.658 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CYP4F22
- Protein
- p.Lys296=
- Coding
- c.888G>A
- MANE Select
- NM_173483
- dbSNP
- rs1971448761
- Type
- single nucleotide variant
- Location
- chr19:15540666 (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-lys296 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown