AK7 p.Thr96=
c.288G>A · rs757482469 · VCV1667106
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.02%, amr)
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 -15 | GERP -3.6 |
| Overall | ||
| CADD | 0.018 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.02%
Admixed American · 12/60,002 alleles
Filtering AF
0.0142%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0134%
Overall
0.0135%
218/1,612,690 alleles · ultra-rare
exomes 198/1,460,486 · genomes 20/152,204 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.02% | 5,000 |
| Remaining individualsnot grpmax-eligible | 0.0192% | 5,196 |
| European (non-Finnish) | 0.0161% | 6,210 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,608 |
| East Asian | 0.00223% | 44,888 |
| Finnishnot grpmax-eligible | 0.00156% | 64,012 |
| African / African-American | 0.00134% | 74,892 |
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
- AK7
- Protein
- p.Thr96=
- Coding
- c.288G>A
- MANE Select
- NM_152327
- dbSNP
- rs757482469
- Type
- single nucleotide variant
- Location
- chr14:96398257 (GRCh38)
- Gene constraint
- LOEUF 0.945 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.35
Similar variants
- AK7 p.Thr96Ala Uncertain significance ★ ⚠ same residue
- AK7 p.Thr96Arg Uncertain significance ★ ⚠ same residue
- AK7 p.Thr96Met Uncertain significance ★ ⚠ same residue
- AK7 p.Ala626Val Uncertain significance ★★ ⚠ same type
- AK7 p.Ala675Val Uncertain significance ★★ ⚠ same type
- AK7 p.Arg108His Uncertain significance ★★ ⚠ same type
- AK7 p.Arg341Gln Uncertain significance ★★ ⚠ same type
- AK7 p.Arg552Gln 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/ak7-p-thr96 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown