AK2 c.+180G>T
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- AK2
- Coding
- c.+180G>T
- MANE Select
- NM_001625
- Type
- single nucleotide variant
- Gene constraint
- LOEUF 0.954 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.49 · 3 PDB
Similar variants
- AK2 c.330+5G>A Pathogenic ★★ same type
- AK2 c.498+1G>A Pathogenic/Likely pathogenic ★★ same type
- AK2 p.Ala182Asp Pathogenic/Likely pathogenic ★★ same type
- AK2 p.Arg103Trp Pathogenic/Likely pathogenic ★★ same type
- AK2 p.Arg175Pro Likely pathogenic ★★ same type
- AK2 p.Met1Val Pathogenic ★★ same type
- AK2 p.Ala212Thr Uncertain significance ★★ ⚠ same type
- AK2 p.Ala2Val 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/ak2-c-plus-180g-t (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown