AIP p.Val49=
c.147G>C · rs1865805178 · VCV3053944
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
AIP-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.5 | GERP 0.64, phastCons 0.96 |
| Overall | ||
| CADD | 4.04 | 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.Val49=
- Coding
- c.147G>C
- MANE Select
- NM_003977
- dbSNP
- rs1865805178
- Type
- single nucleotide variant
- Location
- chr11:67487053 (GRCh38)
- Gene constraint
- LOEUF 0.626 · pLI 0.28 (gnomAD)
- Structure
- AlphaFold pLDDT 91.09 · 5 PDB
- Residue 49
- the ppiase fkbp-type domain; a β-strand; a UniProt-annotated variant site (in pita1; uncertain significance)
Disease context
AIP-related disorder
Similar variants
- AIP p.Val49Leu Uncertain significance ★★ ⚠ same residue
- AIP p.Val49Met Conflicting classifications of pathogenicity ★ ⚠ same residue
- AIP p.Arg304Ter Pathogenic ★★ same condition
- AIP p.Gln14Ter Pathogenic ★★ same condition
- AIP p.Gln229Ter Pathogenic/Likely pathogenic ★★ same condition
- AIP p.Gln143Arg Uncertain significance ★★ ⚠ same condition
- AIP p.Pro218fs Likely pathogenic ★ same condition
- AIP p.Arg271Trp Pathogenic/Likely 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-val49 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown