AK7 p.Pro581=
c.1743G>A · rs115457371 · VCV1590626
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.296%, 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 -6.7 | GERP -3.9 |
| Overall | ||
| CADD | 1.399 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.296%
African / African-American · 222/74,988 alleles
Filtering AF
0.264%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.252%
Overall
0.0205%
331/1,613,678 alleles · rare
exomes 175/1,461,526 · genomes 156/152,152 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.296% | 338 |
| Admixed American | 0.0583% | 1,714 |
| South Asian | 0.0461% | 2,168 |
| Remaining individualsnot grpmax-eligible | 0.0304% | 3,289 |
| Middle Eastern | 0.0165% | 6,062 |
| East Asian | 0.00223% | 44,872 |
| European (non-Finnish) | 0.000932% | 107,251 |
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.Pro581=
- Coding
- c.1743G>A
- MANE Select
- NM_152327
- dbSNP
- rs115457371
- Type
- single nucleotide variant
- Location
- chr14:96478652 (GRCh38)
- Gene constraint
- LOEUF 0.945 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.35
- Residue 581
- the 'adenylate kinase' region
Similar variants
- AK7 p.Pro581Leu 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-pro581 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown