ADK p.Tyr130=
c.390C>T · rs367937485 · VCV2084745
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0428%, sas)
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 -2.4 | GERP -5.2 |
| Overall | ||
| CADD | 2.801 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0428%
South Asian · 39/91,084 alleles
Filtering AF
0.0322%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0284%
Overall
0.00514%
83/1,613,930 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0428% | 2,335 |
| African / African-American | 0.024% | 4,167 |
| Middle Eastern | 0.0165% | 6,058 |
| Remaining individualsnot grpmax-eligible | 0.0112% | 8,929 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00676% | 14,802 |
| East Asian | 0.00669% | 14,956 |
| Finnishnot grpmax-eligible | 0.00312% | 32,007 |
| Admixed American | 0.00167% | 60,016 |
| European (non-Finnish) | 0.000848% | 117,986 |
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.Tyr130=
- Coding
- c.390C>T
- MANE Select
- NM_006721
- dbSNP
- rs367937485
- Type
- single nucleotide variant
- Location
- chr10:74394257 (GRCh38)
- Gene constraint
- LOEUF 0.893 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.40 · 7 PDB
- Residue 130
- a UniProt-annotated variant site (in hmakd); 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-tyr130 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown