UROD p.Glu97=
c.291G>A · VCV4972136
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. | ||
| REVEL | 0.059 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.9 | GERP -1.5, phastCons 1 |
| Overall | ||
| CADD | 7.408 | 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
- UROD
- Protein
- p.Glu97=
- Coding
- c.291G>A
- MANE Select
- NM_000374
- Type
- single nucleotide variant
- Location
- chr1:45013608 (GRCh38)
- Gene constraint
- LOEUF 0.914 · pLI <0.01 · ClinGen HI 2/3 (gnomAD)
- Structure
- AlphaFold pLDDT 96.90 · 19 PDB
- Residue 97
- an α-helix
Similar variants
- UROD c.636+1G>C Pathogenic ★★ same type
- UROD p.Ala80Ser Pathogenic/Likely pathogenic ★★ ⚠ same type
- UROD p.Arg142Ter Pathogenic/Likely pathogenic ★★ same type
- UROD p.Arg144Ter Pathogenic ★★ same type
- UROD p.Arg193Pro Likely pathogenic ★★ same type
- UROD p.Gln116Ter Pathogenic ★★ same type
- UROD p.Gln206Ter Pathogenic/Likely pathogenic ★★ same type
- UROD p.Glu314= Pathogenic/Likely 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/urod-p-glu97 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown