SLC19A1 p.Val116del
c.347_349del · VCV3663445
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.27 | GERP -3.7 |
Variant & gene context
- Gene
- SLC19A1
- Protein
- p.Val116del
- Coding
- c.347_349del
- MANE Select
- NM_194255
- Type
- Deletion
- Location
- chr21:45531989 (GRCh38)
- Gene constraint
- LOEUF 1.585 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 73.30 · 19 PDB
- Residue 116
- an α-helix
Similar variants
- SLC19A1 p.Val116= Benign ★★ same residue
- COL18A1 p.Gly1178fs Pathogenic ★★ same type
- COL18A1 p.Pro993fs Pathogenic ★★ same type
- COL18A1 p.Cys1291fs Pathogenic ★ same type
- COL18A1 p.Gly1197fs Pathogenic ★ same type
- COL18A1 p.Gly1248fs Pathogenic ★ same type
- COL18A1 p.Gly942fs Likely pathogenic ★ same type
- COL18A1 p.His1157fs 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/slc19a1-p-val116del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown