AIP p.Ter331=
c.992G>A · VCV3681376
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | stop-loss | predicted loss-of-function |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 6.6 | GERP 0.66, phastCons 1 |
| Overall | ||
| CADD | 11.33 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- AIP
- Protein
- p.Ter331=
- Coding
- c.992G>A
- MANE Select
- NM_017900 · reported on NM_003977
- Type
- single nucleotide variant
- Location
- chr11:67490992 (GRCh38)
- Structure
- AlphaFold pLDDT 70.14 · 81 PDB
Similar variants
- AIP p.Ter331Cys Uncertain significance ★ same residue
- AIP p.Arg271Trp Pathogenic/Likely pathogenic ★★ same type
- AIP p.Arg304Ter Pathogenic ★★ same type
- AIP p.Arg81Ter Pathogenic ★★ same type
- AIP p.Cys238Tyr Likely pathogenic ★★ same type
- AIP p.Gln126Ter Pathogenic ★★ same type
- AIP p.Gln14Ter Pathogenic ★★ same type
- AIP p.Gln217Ter Pathogenic ★★ 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/aip-p-ter331 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown