AK7 p.Pro484=
c.1452A>G · rs149831663 · VCV2043947
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.153%, nfe)
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 -0.18 | GERP -4.8, phastCons 0.003 |
| Overall | ||
| CADD | 8.413 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.153%
European (non-Finnish) · 1,793/1,174,522 alleles
Filtering AF
0.147%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.144%
Overall
0.125%
1,996/1,599,172 alleles · rare
exomes 1,876/1,446,938 · genomes 120/152,234 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.153% | 655 |
| Ashkenazi Jewishnot grpmax-eligible | 0.127% | 790 |
| Remaining individualsnot grpmax-eligible | 0.121% | 825 |
| Finnishnot grpmax-eligible | 0.104% | 966 |
| African / African-American | 0.0282% | 3,541 |
| Admixed American | 0.00703% | 14,233 |
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.Pro484=
- Coding
- c.1452A>G
- MANE Select
- NM_152327
- dbSNP
- rs149831663
- Type
- single nucleotide variant
- Location
- chr14:96471572 (GRCh38)
- Gene constraint
- LOEUF 0.945 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.35
- Residue 484
- the 'adenylate kinase' region; a binding site
Similar variants
- AK7 p.Pro484Leu 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
- AK7 p.Arg629Gln Uncertain significance ★★ ⚠ same type
- AK7 p.Arg632Gly 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-pro484 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown