SLC18A2 p.Pro336=
c.1008A>C · VCV3711435
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 6.2e-05%)
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 -0.33 | GERP -3.5 |
| Overall | ||
| CADD | 4.597 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
6.2e-05%
Overall
6.2e-05%
1/1,613,654 alleles · very rare
exomes 0/1,461,380 · genomes 1/152,274 · joint denominator
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- SLC18A2
- Protein
- p.Pro336=
- Coding
- c.1008A>C
- MANE Select
- NM_003054
- Type
- single nucleotide variant
- Location
- chr10:117266749 (GRCh38)
- Gene constraint
- LOEUF 0.68 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.27 · 32 PDB
- Residue 336
- an α-helix
Similar variants
- SLC18A2 p.Pro387Leu Pathogenic/Likely pathogenic ★★ same type
- SLC18A2 c.834+6C>T Uncertain significance ★★ same type
- SLC18A2 p.Ala164Val Uncertain significance ★★ ⚠ same type
- SLC18A2 p.Ala425Val Uncertain significance ★★ ⚠ same type
- SLC18A2 p.Arg17Cys Uncertain significance ★★ ⚠ same type
- SLC18A2 p.Gly448Glu Uncertain significance ★★ ⚠ same type
- SLC18A2 p.Ile339Val Uncertain significance ★★ ⚠ same type
- SLC18A2 p.Leu260Val 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/slc18a2-p-pro336 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown