Is AIP p.Thr162Pro (c.484A>C) pathogenic?

AIP p.Thr162Pro (c.484A>C) is classified Uncertain significance in AIP (ClinVar, Single submitter, 1 submitter; last evaluated 2025-11-30). AlphaMissense: ambiguous (0.4836); Absent from gnomAD v4.1.

How common is AIP p.Thr162Pro (c.484A>C) in the general population?

AIP p.Thr162Pro (c.484A>C) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about AIP p.Thr162Pro (c.484A>C)?

AlphaMissense predicts ambiguous (score 0.4836) — an in-silico prediction, not a clinical call.

AIP p.Thr162Pro

c.484A>C · VCV4732228

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.4836 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Computational evidence

Protein change
AlphaMissense	0.4836	ambiguous
REVEL	0.356	indeterminate
SaProt	LLR -14.43	damaging
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 3.3	GERP -1.2, phastCons 1
Overall
CADD	21.3	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

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.Thr162Pro
Coding: c.484A>C
MANE Select: NM_003977
Type: single nucleotide variant
Location: chr11:67490053 (GRCh38)
Gene constraint: LOEUF 0.626 · pLI 0.28 (gnomAD)
Structure: AlphaFold pLDDT 91.09 · 5 PDB
Residue 162: a turn

Full AIP gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

AIP p.Thr162Met Uncertain significance ★★ ⚠ same residue
AIP p.Thr162Ala Uncertain significance ★ ⚠ same residue
AIP p.Thr162= Likely benign ★ 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-thr162pro (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown