AK7 p.Pro166=
c.498C>A · rs1414409169 · VCV2967046
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.48e-05%, 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 -7.7 | GERP -3.9 |
| Overall | ||
| CADD | 0.011 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.48e-05%
European (non-Finnish) · 1/1,179,774 alleles
Overall
6.84e-05%
1/1,461,552 alleles · very rare
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.Pro166=
- Coding
- c.498C>A
- MANE Select
- NM_152327
- dbSNP
- rs1414409169
- Type
- single nucleotide variant
- Location
- chr14:96408941 (GRCh38)
- Gene constraint
- LOEUF 0.945 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.35
Similar variants
- 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
- AK7 p.Asp104Tyr 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-pro166 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown