Is AIP p.Ala274Phe (c.820_821delinsTT) pathogenic?

AIP p.Ala274Phe (c.820821delinsTT) is classified Uncertain significance in AIP (ClinVar, Single submitter, 1 submitter; last evaluated 2023-02-14). Absent from gnomAD.

How common is AIP p.Ala274Phe (c.820_821delinsTT) in the general population?

AIP p.Ala274Phe (c.820_821delinsTT) is absent from gnomAD (gnomAD).

AIP p.Ala274Phe

c.820_821delinsTT · rs2495409708 · VCV2837214

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 0.75, phastCons 1

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: AIP
Protein: p.Ala274Phe
Coding: c.820_821delinsTT
MANE Select: NM_017900 · reported on NM_003977
dbSNP: rs2495409708
Type: Indel
Location: chr11:67490820 (GRCh38)
Structure: AlphaFold pLDDT 70.14 · 81 PDB

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

Similar variants

AIP p.Ala274Thr Uncertain significance ★★ ⚠ same residue
AIP p.Ala274= Conflicting classifications of pathogenicity ★ same residue
AIP p.Ala274Ser Uncertain significance ★ ⚠ same residue
AIP p.Ala274Val Uncertain significance ★ ⚠ same residue
AIP p.Asp172fs Pathogenic ★ same type
AIP p.Asp27Tyr Uncertain significance ★ same type
AIP p.Gln228Arg Uncertain significance ★ same type
AIP p.Lys156Ala Uncertain significance ★ 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-ala274phe (accessed [today's date]).

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