DHDDS p.Asp34Glu
c.102C>A · VCV3256789
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
AlphaMissense
likely pathogenic
0.9996 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
3/3 damaging
AlphaMissense, REVEL, SaProt
Conditions
1
retinitis pigmentosa 59
Computational evidence
| Protein change | ||
| AlphaMissense | 0.9996 | likely pathogenic ✓ concordant with ClinVar · top 1% in DHDDS |
|---|---|---|
| REVEL | 0.853 | moderately pathogenic-leaning |
| SaProt | LLR -11.98 | damaging |
| ⇒ AlphaMissense, REVEL and SaProt all call this damaging. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.17 | GERP -4, phastCons 0.7 |
| Regional constraint | o/e 0.58 | unconstrained · MANE · 9,886 bp · p 3.6e-06 · regional, not allelic |
| Overall | ||
| CADD | 17.69 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
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
- DHDDS
- Protein
- p.Asp34Glu
- Coding
- c.102C>A
- MANE Select
- NM_205861
- Type
- single nucleotide variant
- Location
- chr1:26438206 (GRCh38)
- Gene constraint
- LOEUF 0.536 · pLI 0.91 (gnomAD)
- Structure
- AlphaFold pLDDT 95.01 · 9 PDB
- Residue 34
- a binding site
Similar variants
- DHDDS p.Asp34= Likely benign ★ same residue
- DHDDS p.Asp34fs Pathogenic ★ same residue
- DHDDS c.658-2A>G Likely pathogenic ★★ same condition
- DHDDS p.Arg205Gln Pathogenic ★★ same condition
- DHDDS p.Arg211Gln Pathogenic ★★ same condition
- DHDDS p.Arg37Cys Pathogenic ★★ same condition
- DHDDS p.Arg37His Pathogenic/Likely pathogenic ★★ same condition
- DHDDS p.Arg37Ser Pathogenic ★★ 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/dhdds-p-asp34glu (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown