TRIO p.Ser320=
c.960G>A · rs372630442 · VCV732721
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0764%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -6.4 | GERP -4.6 |
| Overall | ||
| CADD | 0.994 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0764%
European (non-Finnish) · 902/1,180,040 alleles
Filtering AF
0.0723%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0706%
Overall
0.0625%
1,009/1,614,156 alleles · ultra-rare
exomes 942/1,461,880 · genomes 67/152,276 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0764% | 1,308 |
| South Asian | 0.056% | 1,786 |
| Remaining individualsnot grpmax-eligible | 0.048% | 2,083 |
| Middle Eastern | 0.033% | 3,031 |
| Admixed American | 0.02% | 5,002 |
| African / African-American | 0.012% | 8,336 |
| Finnishnot grpmax-eligible | 0.00469% | 21,343 |
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
- TRIO
- Protein
- p.Ser320=
- Coding
- c.960G>A
- MANE Select
- NM_007118
- dbSNP
- rs372630442
- Type
- single nucleotide variant
- Location
- chr5:14291135 (GRCh38)
- Gene constraint
- LOEUF 0.217 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Similar variants
- TRIO p.Ser320Leu Uncertain significance ★ ⚠ same residue
- TRIO p.Ser320Ter Uncertain significance ★ same residue
- TRIO c.2391+1G>A Pathogenic/Likely pathogenic ★★ same type
- TRIO c.3447+2T>C Likely pathogenic ★★ same type
- TRIO c.5497-1G>C Likely pathogenic ★★ same type
- TRIO c.6153+1G>A Pathogenic/Likely pathogenic ★★ same type
- TRIO p.Arg1078Gln Pathogenic/Likely pathogenic ★★ same type
- TRIO p.Arg1078Trp Pathogenic/Likely 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/trio-p-ser320 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown