Is ASB13 p.Arg211Gln (c.632G>A) pathogenic?

ASB13 p.Arg211Gln (c.632G>A) is classified Uncertain significance in ASB13 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-01-03). AlphaMissense: likely benign (0.1245); Ultra-rare (popmax 0.0374%, sas).

How common is ASB13 p.Arg211Gln (c.632G>A) in the general population?

ASB13 p.Arg211Gln (c.632G>A) is ultra-rare (popmax 0.0374%, sas) (gnomAD).

What do computational predictors say about ASB13 p.Arg211Gln (c.632G>A)?

AlphaMissense predicts likely benign (score 0.1245) — an in-silico prediction, not a clinical call.

ASB13 p.Arg211Gln

c.632G>A · rs201941508 · VCV3130105

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.1245 · ACMG-weighted

gnomAD v4.1

Rare

ultra-rare (popmax 0.0374%, sas)

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.1245	likely benign
REVEL	0.211	benign-leaning
SaProt	LLR -10.20	damaging
⇒ SaProt calls this damaging; AlphaMissense and REVEL do not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 7.6	GERP 2.3, phastCons 1
Regional constraint	o/e 1.06	unconstrained · MANE · 26 kb · p 0.23 · regional, not allelic
Overall
CADD	25.8	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 0.0374% South Asian · 34/90,950 alleles

Filtering AF 0.0274% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.024%

Overall 0.00849% 137/1,613,826 alleles · ultra-rare

Ancestry group	Frequency	1 in
Ashkenazi Jewishnot grpmax-eligible	0.186%	538
South Asiangrpmax	0.0374%	2,675
Remaining individualsnot grpmax-eligible	0.0208%	4,807
East Asian	0.00446%	22,436
European (non-Finnish)	0.00271%	36,873
Admixed American	0.00167%	59,996

Ashkenazi Jewish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

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.Arg211Gln
Coding: c.632G>A
MANE Select: NM_024701
dbSNP: rs201941508
Type: single nucleotide variant
Location: chr10:5641847 (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.Arg211Trp 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-arg211gln (accessed [today's date]).

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