What condition is associated with GP1BA p.Phe232Ile (c.694T>A)?

GP1BA p.Phe232Ile (c.694T>A) is associated with Bernard-Soulier syndrome, type A2, autosomal dominant (ClinVar).

How common is GP1BA p.Phe232Ile (c.694T>A) in the general population?

GP1BA p.Phe232Ile (c.694T>A) is absent from gnomAD v4.1 (gnomAD).

How is Pseudo-von Willebrand disease inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

What do computational predictors say about GP1BA p.Phe232Ile (c.694T>A)?

AlphaMissense predicts likely pathogenic (score 0.6664) — an in-silico prediction, not a clinical call.

GP1BA p.Phe232Ile

Q: Is GP1BA p.Phe232Ile (c.694T>A) pathogenic?

GP1BA p.Phe232Ile (c.694T>A) is classified Uncertain significance in GP1BA (ClinVar, Single submitter, 1 submitter). AlphaMissense: likely pathogenic (0.6664); Absent from gnomAD v4.1; Associated with Bernard-Soulier syndrome, type A2, autosomal dominant.

c.694T>A · rs2507592797 · VCV2572106

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.6664 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

Bernard-Soulier syndrome, type A2, autosomal dominant

Computational evidence

Protein change
AlphaMissense	0.6664	likely pathogenic · top 10% in GP1BA
REVEL	0.208	benign-leaning
SaProt	LLR -9.16	tolerated
⇒ AlphaMissense calls this damaging; REVEL and SaProt do not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 2.3	GERP 1.7, phastCons 1
Regional constraint	o/e 0.89	unconstrained · MANE · 1,223 bp · p 0.011 · regional, not allelic
Overall
CADD	23.5	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

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: GP1BA
Protein: p.Phe232Ile
Coding: c.694T>A
MANE Select: NM_000173
dbSNP: rs2507592797
Type: single nucleotide variant
Location: chr17:4933298 (GRCh38)
Gene constraint: LOEUF 1.289 · pLI 0.10 (gnomAD)
Structure: AlphaFold pLDDT 64.65 · 22 PDB
Residue 232: an α-helix; the lrrct domain

Full GP1BA gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Bernard-Soulier syndrome, type A2, autosomal dominant — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Pseudo-von Willebrand disease (Orphanet):

Inheritance: Autosomal dominant
Onset: Adult

Similar variants

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GP1BA p.Trp540Ter Pathogenic ★★★ same condition
GP1BA p.Asn126Asp Uncertain significance ★★★ ⚠ same condition
GP1BA p.Gln196Ter Uncertain significance ★★★ same condition
GP1BA p.Gly220Arg Uncertain significance ★★★ ⚠ same condition
GP1BA p.Leu155Val Uncertain significance ★★★ ⚠ same condition
GP1BA p.Val31Ala Uncertain significance ★★★ 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/gp1ba-p-phe232ile (accessed [today's date]).

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