DHPS p.Glu261=
c.783G>A · VCV4085620
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 | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.065 | GERP -0.8, phastCons 0.92 |
| Overall | ||
| CADD | 8.403 | 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
- DHPS
- Protein
- p.Glu261=
- Coding
- c.783G>A
- MANE Select
- NM_001930
- Type
- single nucleotide variant
- Location
- chr19:12677292 (GRCh38)
- Gene constraint
- LOEUF 0.824 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.95 · 89 PDB
- Residue 261
- an α-helix
Similar variants
- DHPS p.Glu71Lys Uncertain significance ★★ ⚠ same type
- DHPS p.Gly162Arg Uncertain significance ★★ ⚠ same type
- DHPS p.Met124Leu Uncertain significance ★★ ⚠ same type
- DHPS c.784+8G>T Likely benign ★★ same type
- DHPS p.Lys358= Likely benign ★★ same type
- DHPS p.Thr88= Likely benign ★★ same type
- DHPS c.785-1G>C Likely pathogenic ★ same type
- DHPS p.Gln194Ter 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/dhps-p-glu261 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown