GPATCH4 p.Thr326Ile
c.977C>T · VCV4672870
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.75%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.05 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.5 | GERP -1.8 |
| Overall | ||
| CADD | 16.09 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.75%
African / African-American · 562/74,926 alleles
Filtering AF
0.699%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.678%
Overall
0.0418%
674/1,613,844 alleles · rare
exomes 332/1,461,816 · genomes 342/152,028 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.75% | 133 |
| Admixed American | 0.0683% | 1,463 |
| Remaining individualsnot grpmax-eligible | 0.064% | 1,562 |
| Middle Eastern | 0.0495% | 2,021 |
| South Asian | 0.00769% | 13,009 |
| European (non-Finnish) | 0.00178% | 56,187 |
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
- GPATCH4
- Protein
- p.Thr326Ile
- Coding
- c.977C>T
- Type
- single nucleotide variant
- Location
- chr1:156595364 (GRCh38)
- Gene constraint
- LOEUF 1.669 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 57.52
- Residue 326
- the 'disordered' region
Similar variants
- GPATCH4 c.348+115G>A Uncertain significance ★ same type
- GPATCH4 c.-65A>C Uncertain significance ★ same type
- GPATCH4 c.-74G>C Uncertain significance ★ same type
- GPATCH4 c.-79G>C Uncertain significance ★ same type
- GPATCH4 p.Ala162Thr Uncertain significance ★ same type
- GPATCH4 p.Ala174Pro Uncertain significance ★ same type
- GPATCH4 p.Ala219Val Uncertain significance ★ same type
- GPATCH4 p.Ala316Val 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/gpatch4-p-thr326ile (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown