SLC16A1 p.Phe367=
c.1101C>T · rs150299630 · VCV2638998
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0107%, afr)
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 3.6 | GERP -2.2, phastCons 1 |
| Overall | ||
| CADD | 13.22 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0107%
African / African-American · 8/74,910 alleles
Filtering AF
0.00528%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00381%
Overall
0.00149%
24/1,614,048 alleles · ultra-rare
exomes 19/1,461,884 · genomes 5/152,164 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0107% | 9,364 |
| East Asian | 0.00223% | 44,890 |
| Admixed American | 0.00167% | 60,000 |
| European (non-Finnish) | 0.00119% | 84,289 |
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
- SLC16A1
- Protein
- p.Phe367=
- Coding
- c.1101C>T
- MANE Select
- NM_003051
- dbSNP
- rs150299630
- Type
- single nucleotide variant
- Location
- chr1:112917305 (GRCh38)
- Gene constraint
- LOEUF 0.591 · pLI 0.73 (gnomAD)
- Structure
- AlphaFold pLDDT 83.28 · 6 PDB
- Residue 367
- an α-helix
Similar variants
- SLC16A1 p.Arg313Ter Pathogenic ★★ same type
- SLC16A1 c.*77C>T Uncertain significance ★★ same type
- SLC16A1 p.Ala205Thr Uncertain significance ★★ ⚠ same type
- SLC16A1 p.Ala21Thr Uncertain significance ★★ ⚠ same type
- SLC16A1 p.Ala334Val Uncertain significance ★★ ⚠ same type
- SLC16A1 p.Ala449Thr Uncertain significance ★★ ⚠ same type
- SLC16A1 p.Arg328Gln Uncertain significance ★★ ⚠ same type
- SLC16A1 p.Arg328Leu 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/slc16a1-p-phe367 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown