SLC2A9 p.Val204=
c.612G>A · rs1038488878 · VCV2792651
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/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.25 | donor gain · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.1 | GERP 0.4, phastCons 1 |
| Overall | ||
| CADD | 13.78 | 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
- SLC2A9
- Protein
- p.Val204=
- Coding
- c.612G>A
- MANE Select
- NM_020041
- dbSNP
- rs1038488878
- Type
- single nucleotide variant
- Location
- chr4:9980661 (GRCh38)
- Gene constraint
- LOEUF 1.022 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.79 · 7 PDB
- Residue 204
- an α-helix
Similar variants
- SLC2A9 p.Val204Met Uncertain significance ★ ⚠ same residue
- SLC2A9 p.Val204_Thr205insMet Uncertain significance ★ same residue
- SLC2A9 c.681+1G>T Likely pathogenic ★★ same type
- SLC2A9 p.Leu75Arg Pathogenic/Likely pathogenic ★★ same type
- SLC2A9 p.Thr125Met Likely pathogenic ★★ ⚠ same type
- SLC2A9 p.Arg380Gln Uncertain significance ★★ ⚠ same type
- SLC2A9 p.Arg447Trp Uncertain significance ★★ ⚠ same type
- SLC2A9 p.Asn144Ser Uncertain significance ★★ ⚠ 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/slc2a9-p-val204 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown