Is ASB13 p.Ser97Arg (c.291C>G) pathogenic?

ASB13 p.Ser97Arg (c.291C>G) is classified Uncertain significance in ASB13 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-12-13). AlphaMissense: likely pathogenic (0.9153); Very rare (popmax 0.00763%, nfe).

How common is ASB13 p.Ser97Arg (c.291C>G) in the general population?

ASB13 p.Ser97Arg (c.291C>G) is very rare (popmax 0.00763%, nfe) (gnomAD).

What do computational predictors say about ASB13 p.Ser97Arg (c.291C>G)?

AlphaMissense predicts likely pathogenic (score 0.9153) — an in-silico prediction, not a clinical call.

ASB13 p.Ser97Arg

c.291C>G · rs373144761 · VCV3130099

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.9153 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.00763%, nfe)

Missense predictors

2/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.9153	likely pathogenic
REVEL	0.216	benign-leaning
SaProt	LLR -12.56	damaging
⇒ AlphaMissense and SaProt call this damaging; REVEL does not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 5.6	GERP -0.54, phastCons 1
Regional constraint	o/e 1.06	unconstrained · MANE · 26 kb · p 0.23 · regional, not allelic
Overall
CADD	24.3	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 0.00763% European (non-Finnish) · 90/1,179,982 alleles

Filtering AF 0.00631% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00584%

Overall 0.0057% 92/1,613,922 alleles · very rare

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.00763%	13,111
Remaining individualsnot grpmax-eligible	0.0016%	62,488
African / African-American	0.00133%	74,928

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: ASB13
Protein: p.Ser97Arg
Coding: c.291C>G
MANE Select: NM_024701
dbSNP: rs373144761
Type: single nucleotide variant
Location: chr10:5651304 (GRCh38)
Gene constraint: LOEUF 1.686 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 91.60

Full ASB13 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ASB13 p.Ser97Ile Uncertain significance ★ ⚠ same residue
ASB13 p.Ala124Val Uncertain significance ★ ⚠ same type
ASB13 p.Ala189Thr Uncertain significance ★ ⚠ same type
ASB13 p.Ala190Ser Uncertain significance ★ ⚠ same type
ASB13 p.Ala210Asp Uncertain significance ★ ⚠ same type
ASB13 p.Ala210Pro Uncertain significance ★ ⚠ same type
ASB13 p.Ala263Thr Uncertain significance ★ ⚠ same type
ASB13 p.Ala58Thr 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/asb13-p-ser97arg (accessed [today's date]).

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