ABCC2 p.Val417Thr
c.1249_1250inv · VCV499624
Uncertain significance
Multiple submitters
Classification
Uncertain significance
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
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 -6.9 | GERP -5.1 |
| Regional constraint | o/e 0.98 | unconstrained · MANE · 69 kb · p 0.48 · regional, not allelic |
Variant & gene context
- Gene
- ABCC2
- Protein
- p.Val417Thr
- Coding
- c.1249_1250inv
- MANE Select
- NM_000392
- Type
- Inversion
- Location
- chr10:99804058 (GRCh38)
- Gene constraint
- LOEUF 0.985 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.40 · 16 PDB
- Residue 417
- an α-helix; the abc transmembrane type-1 1 domain; a UniProt-annotated variant site (in)
Similar variants
- ABCC2 p.Val417Ile Benign/Likely benign ★★ ⚠ same residue
- ABCC2 p.Val417Ala Conflicting classifications of pathogenicity ★ ⚠ same residue
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/abcc2-p-val417thr (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown