ADSL p.Val138=
c.414G>A · rs752659791 · VCV2042964
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
adenylosuccinate lyase deficiency
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 3.8 | GERP 0.55, phastCons 1 |
| Overall | ||
| CADD | 10.18 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ADSL
- Protein
- p.Val138=
- Coding
- c.414G>A
- MANE Select
- NM_000026
- dbSNP
- rs752659791
- Type
- single nucleotide variant
- Location
- chr22:40354259 (GRCh38)
- Gene constraint
- LOEUF 0.915 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 96.82 · 4 PDB
- Residue 138
- an α-helix
Disease context
adenylosuccinate lyase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Adenylosuccinate lyase deficiency (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Childhood, Infancy, Neonatal
Similar variants
- ADSL c.1191+5G>C Pathogenic/Likely pathogenic ★★ same condition
- ADSL c.402+1G>T Likely pathogenic ★★ same condition
- ADSL c.482+1G>C Likely pathogenic ★★ same condition
- ADSL c.-49T>C Pathogenic/Likely pathogenic ★★ same condition
- ADSL p.Arg141Trp Pathogenic/Likely pathogenic ★★ same condition
- ADSL p.Arg149Ter Pathogenic/Likely pathogenic ★★ same condition
- ADSL p.Arg190Gln Pathogenic/Likely pathogenic ★★ ⚠ same condition
- ADSL p.Arg190Ter Pathogenic ★★ same condition
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/adsl-p-val138 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown