ADK p.Val125=
c.375G>C · rs772902599 · VCV1608943
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00988%, 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 2.3 | GERP 0.9, phastCons 1 |
| Overall | ||
| CADD | 6.235 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00988%
South Asian · 9/91,084 alleles
Filtering AF
0.00514%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00375%
Overall
0.00178%
26/1,461,776 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00988% | 10,120 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,251 |
| European (non-Finnish) | 0.00127% | 78,663 |
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.Val125=
- Coding
- c.375G>C
- MANE Select
- NM_006721
- dbSNP
- rs772902599
- Type
- single nucleotide variant
- Location
- chr10:74394242 (GRCh38)
- Gene constraint
- LOEUF 0.893 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.40 · 7 PDB
- Residue 125
- a UniProt-annotated variant site (in hmakd)
Similar variants
- ADK p.Val125Ala Uncertain significance ★ ⚠ same residue
- 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
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-val125 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown