ADK p.Ala142=
c.426A>G · rs148712301 · VCV1929788
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0333%, 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 -9 | GERP -5.2 |
| Overall | ||
| CADD | 0.103 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0333%
African / African-American · 25/75,046 alleles
Filtering AF
0.0231%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0197%
Overall
0.00229%
37/1,614,002 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0333% | 3,002 |
| Admixed American | 0.00167% | 60,018 |
| European (non-Finnish) | 0.000932% | 107,268 |
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.Ala142=
- Coding
- c.426A>G
- MANE Select
- NM_006721
- dbSNP
- rs148712301
- Type
- single nucleotide variant
- Location
- chr10:74394293 (GRCh38)
- Gene constraint
- LOEUF 0.893 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.40 · 7 PDB
- Residue 142
- 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-ala142 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown