Is AIP p.Val243Met (c.726_727delinsAA) pathogenic?

AIP p.Val243Met (c.726727delinsAA) is classified Uncertain significance in AIP (ClinVar, Single submitter, 1 submitter; last evaluated 2025-04-07). No gnomAD frequency available for this variant.

How common is AIP p.Val243Met (c.726_727delinsAA) in the general population?

AIP p.Val243Met (c.726_727delinsAA) is no gnomAD frequency available for this variant (gnomAD).

AIP p.Val243Met

c.726_727delinsAA · rs2495407258 · VCV2134907

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 5.8	GERP 0.66, 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.Val243Met
Coding: c.726_727delinsAA
MANE Select: NM_003977
dbSNP: rs2495407258
Type: Indel
Location: chr11:67490396 (GRCh38)
Gene constraint: LOEUF 0.626 · pLI 0.28 (gnomAD)
Structure: AlphaFold pLDDT 91.09 · 5 PDB
Residue 243: an α-helix

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

Similar variants

AIP p.Val243Leu Uncertain significance ★★ ⚠ same residue
AIP p.Val243= Likely benign ★ same residue
AIP p.Val243Ala Likely benign ★ same residue
AIP p.Asp172fs Pathogenic ★ same type
AIP p.Ala274Phe Uncertain significance ★ 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-val243met (accessed [today's date]).

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