UROD p.Glu271=
c.813G>A · rs535589674 · VCV756186
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00223%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.192 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 3.9 | GERP -0.44, phastCons 1 |
| Overall | ||
| CADD | 7.849 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00223%
East Asian · 1/44,888 alleles
Overall
0.000137%
2/1,461,884 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00223% | 44,888 |
| African / African-American | 0.00133% | 75,070 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- UROD
- Protein
- p.Glu271=
- Coding
- c.813G>A
- MANE Select
- NM_000374
- dbSNP
- rs535589674
- Type
- single nucleotide variant
- Location
- chr1:45014774 (GRCh38)
- Gene constraint
- LOEUF 0.914 · pLI <0.01 · ClinGen HI 2/3 (gnomAD)
- Structure
- AlphaFold pLDDT 96.90 · 19 PDB
- Residue 271
- an α-helix
Similar variants
- UROD p.Glu271Asp Uncertain significance ★ ⚠ same residue
- UROD p.Glu271fs Pathogenic ★ same residue
- 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
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-glu271 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown