Is STAP1 p.Gln192Arg (c.575A>G) pathogenic?

STAP1 p.Gln192Arg (c.575A>G) is classified Uncertain significance in STAP1 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-10-17). AlphaMissense: likely benign (0.112); Absent from gnomAD v4.1; Associated with STAP1-related disorder.

What condition is associated with STAP1 p.Gln192Arg (c.575A>G)?

STAP1 p.Gln192Arg (c.575A>G) is associated with STAP1-related disorder (ClinVar).

How common is STAP1 p.Gln192Arg (c.575A>G) in the general population?

STAP1 p.Gln192Arg (c.575A>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about STAP1 p.Gln192Arg (c.575A>G)?

AlphaMissense predicts likely benign (score 0.112) — an in-silico prediction, not a clinical call.

STAP1 p.Gln192Arg

c.575A>G · VCV4590310

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

AlphaMissense

likely benign

0.112 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/2 damaging

AlphaMissense, SaProt · REVEL no call

Conditions

STAP1-related disorder

Computational evidence

Protein change
AlphaMissense	0.112	likely benign
REVEL	0.414	indeterminate
SaProt	LLR -8.45	tolerated
⇒ AlphaMissense and SaProt both call this tolerated; REVEL makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 9.2	GERP 2.6, phastCons 1
Overall
CADD	24.1	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — 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: STAP1
Protein: p.Gln192Arg
Coding: c.575A>G
MANE Select: NM_012108
Type: single nucleotide variant
Location: chr4:67583618 (GRCh38)
Structure: AlphaFold pLDDT 88.06

Full STAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

STAP1-related disorder

Similar variants

STAP1 p.Leu288Val Uncertain significance ★★ ⚠ same condition
STAP1 c.-3G>T Likely benign same condition
STAP1 p.Met2Thr Benign same condition
STAP1 c.120+6T>C Benign/Likely benign ★★ same type
STAP1 c.192+102T>C Likely benign ★★ same type
STAP1 c.192+10T>C Benign ★★ same type
STAP1 c.530+11A>G Benign ★★ same type
STAP1 c.530+60A>G Benign ★★ 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/stap1-p-gln192arg (accessed [today's date]).

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