Is ASB10 p.Ile102Val (c.304A>G) pathogenic?

ASB10 p.Ile102Val (c.304A>G) is classified Uncertain significance in ASB10 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-07-22). AlphaMissense: ambiguous (0.3848); Very rare (popmax 0.00225%, eas).

How common is ASB10 p.Ile102Val (c.304A>G) in the general population?

ASB10 p.Ile102Val (c.304A>G) is very rare (popmax 0.00225%, eas) (gnomAD).

What do computational predictors say about ASB10 p.Ile102Val (c.304A>G)?

AlphaMissense predicts ambiguous (score 0.3848) — an in-silico prediction, not a clinical call.

ASB10 p.Ile102Val

c.304A>G · VCV3434024

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.3848 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.00225%, eas)

Missense predictors

0/2 damaging

REVEL, SaProt · AlphaMissense no call

Computational evidence

Protein change
AlphaMissense	0.3848	ambiguous
REVEL	0.074	moderately benign-leaning
SaProt	LLR -5.34	tolerated
⇒ REVEL and SaProt both call this tolerated; AlphaMissense makes no call.
Splicing
SpliceAI	Δ0.39	donor gain · deltas
Constraint at this position
Conservation	phyloP 7.7	GERP 1.2, phastCons 1
Regional constraint	o/e 1.02	unconstrained · MANE · 11 kb · p 0.61 · regional, not allelic
Overall
CADD	22.8	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

Grpmax group 0.00225% East Asian · 1/44,494 alleles

Filtering AF 8e-05% ClinGen BA1/BS1 input FAF95, joint · FAF99 5.4e-05%

Overall 0.000313% 5/1,598,636 alleles · very rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.00225%	44,494
European (non-Finnish)	0.000342%	292,427

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: ASB10
Protein: p.Ile102Val
Coding: c.304A>G
MANE Select: NM_001142459
Type: single nucleotide variant
Location: chr7:151186827 (GRCh38)
Gene constraint: LOEUF 1.634 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 78.98

Full ASB10 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ASB10 p.Arg138Trp Uncertain significance ★★ ⚠ same type
ASB10 p.Arg434Cys Uncertain significance ★★ ⚠ same type
ASB10 p.Leu455Ile Uncertain significance ★★ ⚠ same type
ASB10 p.Phe416Leu Uncertain significance ★★ ⚠ same type
ASB10 p.Pro31Thr Uncertain significance ★★ ⚠ same type
ASB10 p.Pro346Ser Uncertain significance ★★ ⚠ same type
ASB10 p.Pro422Arg Uncertain significance ★★ ⚠ same type
ASB10 p.Pro451Leu 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/asb10-p-ile102val (accessed [today's date]).

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