SLC19A2 p.Leu95=
c.285C>T · rs2526257739 · VCV3061654
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
SLC19A2-related disorder
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 9.9 | GERP 0.31, phastCons 1 |
| Overall | ||
| CADD | 11.66 | 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
- SLC19A2
- Protein
- p.Leu95=
- Coding
- c.285C>T
- MANE Select
- NM_006996
- dbSNP
- rs2526257739
- Type
- single nucleotide variant
- Location
- chr1:169477677 (GRCh38)
- Gene constraint
- LOEUF 0.852 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 80.99 · 2 PDB
- Residue 95
- a turn
Disease context
SLC19A2-related disorder
Similar variants
- SLC19A2 p.Leu95Phe Uncertain significance ★★ ⚠ same residue
- SLC19A2 c.1223+1G>A Pathogenic ★★ same condition
- SLC19A2 p.Arg162Ter Pathogenic ★★ same condition
- SLC19A2 p.Arg397Ter Pathogenic/Likely pathogenic ★★ same condition
- SLC19A2 p.Gly172Asp Pathogenic/Likely pathogenic ★★ same condition
- SLC19A2 p.Gly334Asp Pathogenic/Likely pathogenic ★★ same condition
- SLC19A2 c.1031-1G>A Pathogenic ★ same condition
- SLC19A2 p.Tyr393= Likely benign 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/slc19a2-p-leu95 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown