CETP p.Phe367=
c.1101T>C · rs2056163890 · VCV887869
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Hyperalphalipoproteinemia 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 0.086 | GERP -1.2 |
| Overall | ||
| CADD | 4.875 | 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
- CETP
- Protein
- p.Phe367=
- Coding
- c.1101T>C
- MANE Select
- NM_000078
- dbSNP
- rs2056163890
- Type
- single nucleotide variant
- Location
- chr16:56978210 (GRCh38)
- Gene constraint
- LOEUF 1.013 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.45 · 3 PDB
- Residue 367
- a β-strand
Similar variants
- CETP p.Arg54Ter Likely pathogenic ★★ same condition
- CETP p.Arg31His Uncertain significance ★★ ⚠ same condition
- CETP p.Gln104Arg Uncertain significance ★★ ⚠ same condition
- CETP p.Leu449Ile Uncertain significance ★★ ⚠ same condition
- CETP p.Thr61Met Uncertain significance ★★ ⚠ same condition
- CETP p.Thr8Ile Uncertain significance ★★ ⚠ same condition
- CETP p.Val340Ile Uncertain significance ★★ ⚠ same condition
- CETP c.1146+7C>T Benign/Likely benign ★★ same condition
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/cetp-p-phe367 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown