ADK p.Leu26=
c.78C>G · rs755289664 · VCV2178939
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0167%, 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 -0.067 | GERP 0.24, phastCons 0.61 |
| Overall | ||
| CADD | 5.518 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0167%
Admixed American · 10/59,966 alleles
Filtering AF
0.009%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00682%
Overall
0.000807%
13/1,610,250 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0167% | 5,997 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,560 |
| European (non-Finnish) | 0.00017% | 588,658 |
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
- ADK
- Protein
- p.Leu26=
- Coding
- c.78C>G
- MANE Select
- NM_006721
- dbSNP
- rs755289664
- Type
- single nucleotide variant
- Location
- chr10:74200776 (GRCh38)
- Gene constraint
- LOEUF 0.893 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.40 · 7 PDB
- Residue 26
- a β-strand
Similar variants
- ADK p.Ala344Val Pathogenic/Likely pathogenic ★★ same type
- ADK p.Arg338Cys Uncertain significance ★★ ⚠ same type
- ADK p.Arg338His Uncertain significance ★★ ⚠ same type
- ADK p.Asn53Asp Uncertain significance ★★ ⚠ same type
- ADK p.Asp305Glu Uncertain significance ★★ ⚠ same type
- ADK p.Gln306Leu Uncertain significance ★★ ⚠ same type
- ADK p.Ile87Val Uncertain significance ★★ ⚠ same type
- ADK p.Lys264Asn 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/adk-p-leu26 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown