AIP p.Pro180=
c.540A>G · rs2134254718 · VCV1549528
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · A>T here scores Δ0.34 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -15 | GERP -3.5 |
| Overall | ||
| CADD | 0.163 | 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
- AIP
- Protein
- p.Pro180=
- Coding
- c.540A>G
- MANE Select
- NM_017900 · reported on NM_003977
- dbSNP
- rs2134254718
- Type
- single nucleotide variant
- Location
- chr11:67490109 (GRCh38)
- Structure
- AlphaFold pLDDT 70.14 · 81 PDB
Similar variants
- AIP p.Pro180Gln Uncertain significance ★★ ⚠ same residue
- AIP p.Pro180Leu Uncertain significance ★★ ⚠ same residue
- AIP p.Pro180Ser 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
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-pro180 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown