Is AIP p.Arg307Pro (c.920G>C) pathogenic?

AIP p.Arg307Pro (c.920G>C) is classified Uncertain significance in AIP (ClinVar, Single submitter, 1 submitter; last evaluated 2023-06-23). AlphaMissense: likely pathogenic (0.8773); Absent from gnomAD v4.1.

How common is AIP p.Arg307Pro (c.920G>C) in the general population?

AIP p.Arg307Pro (c.920G>C) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about AIP p.Arg307Pro (c.920G>C)?

AlphaMissense predicts likely pathogenic (score 0.8773) — an in-silico prediction, not a clinical call.

AIP p.Arg307Pro

c.920G>C · rs4930199 · VCV2725016

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.8773 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

2/2 damaging

AlphaMissense, SaProt

Computational evidence

Protein change
AlphaMissense	0.8773	likely pathogenic
SaProt	LLR -14.24	damaging
⇒ AlphaMissense and SaProt both call this damaging.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 5.9	GERP 2, phastCons 1
Overall
CADD	23.1	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean damaging — a triage signal, not a reclassification

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.Arg307Pro
Coding: c.920G>C
MANE Select: NM_003977
dbSNP: rs4930199
Type: single nucleotide variant
Location: chr11:67490920 (GRCh38)
Gene constraint: LOEUF 0.626 · pLI 0.28 (gnomAD)
Structure: AlphaFold pLDDT 91.09 · 5 PDB
Residue 307: a UniProt-annotated variant site (in); an α-helix

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

Similar variants

AIP p.Arg307Trp Uncertain significance ★★ ⚠ same residue
AIP p.Arg307= Uncertain significance ★ same residue
AIP p.Arg307Gln Uncertain significance ★ ⚠ same residue
AIP p.Arg307Gly Uncertain significance ★ ⚠ same residue
AIP p.Arg307fs Conflicting classifications of pathogenicity ★ same residue
AIP p.Arg271Trp Pathogenic/Likely pathogenic ★★ same type
AIP p.Arg304Ter Pathogenic ★★ same type
AIP p.Arg81Ter 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-arg307pro (accessed [today's date]).

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