Is BAAT p.Arg201Cys (c.601C>T) pathogenic?

BAAT p.Arg201Cys (c.601C>T) is classified Uncertain significance in BAAT (ClinVar, Single submitter, 1 submitter; last evaluated 2022-10-12). AlphaMissense: likely benign (0.0912); Ultra-rare (popmax 0.012%, afr); Associated with BAAT-related disorder.

What condition is associated with BAAT p.Arg201Cys (c.601C>T)?

BAAT p.Arg201Cys (c.601C>T) is associated with BAAT-related disorder (ClinVar).

How common is BAAT p.Arg201Cys (c.601C>T) in the general population?

BAAT p.Arg201Cys (c.601C>T) is ultra-rare (popmax 0.012%, afr) (gnomAD).

What do computational predictors say about BAAT p.Arg201Cys (c.601C>T)?

AlphaMissense predicts likely benign (score 0.0912) — an in-silico prediction, not a clinical call.

BAAT p.Arg201Cys

c.601C>T · rs371212382 · VCV2635723

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0912 · ACMG-weighted

gnomAD v4.1

Rare

ultra-rare (popmax 0.012%, afr)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

BAAT-related disorder

Computational evidence

Protein change
AlphaMissense	0.0912	likely benign
REVEL	0.054	moderately benign-leaning
SaProt	LLR -7.49	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 -3.7	GERP -3.7
Regional constraint	o/e 0.97	unconstrained · MANE · 8,973 bp · p 0.5 · regional, not allelic
Overall
CADD	0.09	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 0.012% African / African-American · 9/75,038 alleles

Filtering AF 0.00623% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00467%

Overall 0.00186% 30/1,614,154 alleles · ultra-rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.012%	8,338
Remaining individualsnot grpmax-eligible	0.0048%	20,835
South Asian	0.0022%	45,543
European (non-Finnish)	0.00136%	73,751

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: BAAT
Protein: p.Arg201Cys
Coding: c.601C>T
MANE Select: NM_001701
dbSNP: rs371212382
Type: single nucleotide variant
Location: chr9:101368188 (GRCh38)
Gene constraint: LOEUF 1.049 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 95.31
Residue 201: a UniProt-annotated variant site (in fhca3; contrary to wild-type, undetectable expression in hepatocytes)

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

Disease context

BAAT-related disorder

Similar variants

BAAT p.Arg201His Benign/Likely benign ★★ same residue
BAAT p.Arg201Pro Benign ★★ same residue
BAAT p.Glu54Lys Uncertain significance ★★ ⚠ same condition
BAAT p.Gly41Arg Uncertain significance ★★ ⚠ same condition
BAAT p.Tyr108Ter Likely pathogenic ★ same condition
BAAT p.Ala253= Likely benign same condition
BAAT p.Gly185= Likely benign same condition
BAAT p.Leu87= Likely benign same condition

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/baat-p-arg201cys (accessed [today's date]).

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