Is ASB6 p.Glu230= (c.690G>A) pathogenic?

ASB6 p.Glu230= (c.690G>A) is classified Likely benign in ASB6 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-07-23). Absent from gnomAD v4.1.

How common is ASB6 p.Glu230= (c.690G>A) in the general population?

ASB6 p.Glu230= (c.690G>A) is absent from gnomAD v4.1 (gnomAD).

ASB6 p.Glu230=

c.690G>A · VCV3435087

Likely benign Single submitter

Classification

Likely benign

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	0.053	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -1.3	GERP -3.1
Overall
CADD	4.119	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: ASB6
Protein: p.Glu230=
Coding: c.690G>A
MANE Select: NM_017873
Type: single nucleotide variant
Location: chr9:129638366 (GRCh38)
Gene constraint: LOEUF 1.225 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 87.02

Full ASB6 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ASB6 p.Val225= Likely benign ★★ same type
ASB6 p.Ala167Thr Uncertain significance ★ ⚠ same type
ASB6 p.Ala286Thr Uncertain significance ★ ⚠ same type
ASB6 p.Ala355Val Uncertain significance ★ ⚠ same type
ASB6 p.Ala43Ser Uncertain significance ★ ⚠ same type
ASB6 p.Ala72Thr Uncertain significance ★ ⚠ same type
ASB6 p.Ala77Val Uncertain significance ★ ⚠ same type
ASB6 p.Ala84Val 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/asb6-p-glu230 (accessed [today's date]).

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