CHST14 p.Phe47=
c.141T>C · VCV3492639
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,552,792)
Conditions
1
Cardiovascular phenotype
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 0.75 | GERP -2.5, phastCons 1 |
| Overall | ||
| CADD | 9.698 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,552,792). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- CHST14
- Protein
- p.Phe47=
- Coding
- c.141T>C
- MANE Select
- NM_130468
- Type
- single nucleotide variant
- Location
- chr15:40471354 (GRCh38)
- Gene constraint
- LOEUF 0.917 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.17
Similar variants
- CHST14 p.Arg320Ter Likely pathogenic ★★ same condition
- CHST14 p.Ala100Thr Uncertain significance ★★ ⚠ same condition
- CHST14 p.Ala15Pro Uncertain significance ★★ ⚠ same condition
- CHST14 p.Ala346Pro Uncertain significance ★★ ⚠ same condition
- CHST14 p.Ala373Ser Uncertain significance ★★ ⚠ same condition
- CHST14 p.Ala373Val Uncertain significance ★★ ⚠ same condition
- CHST14 p.Ala52Val Uncertain significance ★★ ⚠ same condition
- CHST14 p.Arg109Trp Uncertain significance ★★ ⚠ 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/chst14-p-phe47 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown