APRT p.Val126del
c.372CGT[1] · rs2508231700 · VCV2115627
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.33 | GERP 1.6, phastCons 0.99 |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- APRT
- Protein
- p.Val126del
- Coding
- c.372CGT[1]
- MANE Select
- NM_000485
- dbSNP
- rs2508231700
- Type
- Microsatellite
- Location
- chr16:88810093 (GRCh38)
- Gene constraint
- LOEUF 1.789 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 96.91 · 16 PDB
- Residue 126
- a β-strand
Similar variants
- APRT p.Val126Met Uncertain significance ★★ ⚠ same residue
- APRT p.Val126Leu Uncertain significance ★ ⚠ same residue
- APRT p.Leu97fs Pathogenic ★★ same type
- APRT p.Phe174del Pathogenic/Likely pathogenic ★★ same type
- APRT c.*327CAG[1] Benign ★ 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/aprt-p-val126del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown