Is ADPGK p.Ser88Ala (c.262T>G) pathogenic?

ADPGK p.Ser88Ala (c.262T>G) is classified Uncertain significance in ADPGK (ClinVar, Single submitter, 1 submitter; last evaluated 2024-08-01). Absent from gnomAD v4.1.

How common is ADPGK p.Ser88Ala (c.262T>G) in the general population?

ADPGK p.Ser88Ala (c.262T>G) is absent from gnomAD v4.1 (gnomAD).

ADPGK p.Ser88Ala

c.262T>G · VCV3501814

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.298	indeterminate
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 11	GERP 1.6, phastCons 1
Regional constraint	o/e 0.83	unconstrained · MANE · 31 kb · p 0.0001 · regional, not allelic
Overall
CADD	26.2	PHRED · no single calibrated threshold — expert panels disagree

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: ADPGK
Protein: p.Ser88Ala
Coding: c.262T>G
MANE Select: NM_001365225
Type: single nucleotide variant
Location: chr15:72775069 (GRCh38)
Gene constraint: LOEUF 0.937 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 91.36
Residue 88: the adpk domain

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

Similar variants

ADPGK p.Ala146Val Uncertain significance ★ same type
ADPGK p.Ala2Val Uncertain significance ★ same type
ADPGK p.Ala318Thr Uncertain significance ★ same type
ADPGK p.Ala318Val Uncertain significance ★ same type
ADPGK p.Ala416Thr Uncertain significance ★ same type
ADPGK p.Ala429Val Uncertain significance ★ same type
ADPGK p.Ala58Val Uncertain significance ★ same type
ADPGK p.Ala59Val 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/adpgk-p-ser88ala (accessed [today's date]).

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