Is AIDA p.Glu45Lys (c.133G>A) pathogenic?

AIDA p.Glu45Lys (c.133G>A) is classified Uncertain significance in AIDA (ClinVar, Single submitter, 1 submitter; last evaluated 2023-05-18). AlphaMissense: likely pathogenic (0.9165); Absent from gnomAD v4.1.

How common is AIDA p.Glu45Lys (c.133G>A) in the general population?

AIDA p.Glu45Lys (c.133G>A) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about AIDA p.Glu45Lys (c.133G>A)?

AlphaMissense predicts likely pathogenic (score 0.9165) — an in-silico prediction, not a clinical call.

AIDA p.Glu45Lys

c.133G>A · rs2124968538 · VCV2548833

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.9165 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

2/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.9165	likely pathogenic
REVEL	0.161	moderately benign-leaning
SaProt	LLR -10.98	damaging
⇒ AlphaMissense and SaProt call this damaging; REVEL does not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 7.7	GERP 2, phastCons 1
Regional constraint	o/e 0.86	unconstrained · MANE · 42 kb · p 0.028 · regional, not allelic
Overall
CADD	23.9	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: AIDA
Protein: p.Glu45Lys
Coding: c.133G>A
MANE Select: NM_022831
dbSNP: rs2124968538
Type: single nucleotide variant
Location: chr1:222703195 (GRCh38)
Gene constraint: LOEUF 0.545 · pLI 0.93 (gnomAD)
Structure: AlphaFold pLDDT 86.37

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

Similar variants

AIDA p.Asn51Ser Uncertain significance ★ ⚠ same type
AIDA p.Asp134Tyr Uncertain significance ★ ⚠ same type
AIDA p.Asp186Asn Uncertain significance ★ ⚠ same type
AIDA p.Cys69Arg Uncertain significance ★ ⚠ same type
AIDA p.Glu265Val Uncertain significance ★ ⚠ same type
AIDA p.Gly198Ser Uncertain significance ★ ⚠ same type
AIDA p.Gly236Asp Uncertain significance ★ ⚠ same type
AIDA p.Ile120Asn 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/aida-p-glu45lys (accessed [today's date]).

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