Is ASB9 p.Val282Ile (c.844G>A) pathogenic?

ASB9 p.Val282Ile (c.844G>A) is classified Uncertain significance in ASB9 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-11-29). AlphaMissense: likely benign (0.0732); Very rare (popmax 0.00887%, sas).

How common is ASB9 p.Val282Ile (c.844G>A) in the general population?

ASB9 p.Val282Ile (c.844G>A) is very rare (popmax 0.00887%, sas) (gnomAD).

What do computational predictors say about ASB9 p.Val282Ile (c.844G>A)?

AlphaMissense predicts likely benign (score 0.0732) — an in-silico prediction, not a clinical call.

ASB9 p.Val282Ile

c.844G>A · rs374177117 · VCV2343577

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0732 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.00887%, sas)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0732	likely benign
REVEL	0.067	moderately benign-leaning
SaProt	LLR -6.58	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -5.3	GERP -3.6
Regional constraint	o/e 0.94	unconstrained · MANE · 25 kb · p 0.38 · regional, not allelic
Overall
CADD	0.004	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

Grpmax group 0.00887% South Asian · 5/56,368 alleles

Filtering AF 0.00343% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00218%

Overall 0.00109% 13/1,194,145 alleles · very rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.00887%	11,274
Admixed American	0.00879%	11,376
Remaining individualsnot grpmax-eligible	0.00424%	23,571
African / African-American	0.00177%	56,504
European (non-Finnish)	0.000113%	881,725

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: ASB9
Protein: p.Val282Ile
Coding: c.844G>A
MANE Select: NM_001031739
dbSNP: rs374177117
Type: single nucleotide variant
Location: chrX:15244547 (GRCh38)
Structure: AlphaFold pLDDT 91.89 · 4 PDB
Residue 282: a β-strand; the socs box domain

Full ASB9 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

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ASB9 p.Ala181Val Uncertain significance ★ ⚠ same type
ASB9 p.Ala215Gly Uncertain significance ★ ⚠ same type
ASB9 p.Arg234Cys Uncertain significance ★ ⚠ same type
ASB9 p.Arg267Gln Uncertain significance ★ ⚠ same type
ASB9 p.Gln178Arg Uncertain significance ★ ⚠ same type
ASB9 p.Gln179His Uncertain significance ★ ⚠ same type
ASB9 p.Gln247Lys 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/asb9-p-val282ile (accessed [today's date]).

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