HSD17B3 p.Pro147=
c.441G>T · rs188471808 · VCV2841088
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 | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -12 | |
| Overall | ||
| CADD | 0.045 | 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
- HSD17B3
- Protein
- p.Pro147=
- Coding
- c.441G>T
- MANE Select
- NM_000197
- dbSNP
- rs188471808
- Type
- single nucleotide variant
- Location
- chr9:96251430 (GRCh38)
- Gene constraint
- LOEUF 0.903 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 93.59
Similar variants
- HSD17B3 p.Pro147Leu Uncertain significance ★★ ⚠ same residue
- HSD17B3 c.194C>T Pathogenic/Likely pathogenic ★★ same type
- HSD17B3 c.201+1G>A Pathogenic ★★ same type
- HSD17B3 c.202-1G>A Pathogenic ★★ same type
- HSD17B3 c.277+4A>T Pathogenic ★★ same type
- HSD17B3 c.278-1G>C Pathogenic ★★ same type
- HSD17B3 p.Ala203Val Pathogenic/Likely pathogenic ★★ ⚠ same type
- HSD17B3 p.Arg80Gln 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/hsd17b3-p-pro147 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown