Is BLNK p.Pro244Arg (c.731C>G) pathogenic?

BLNK p.Pro244Arg (c.731C>G) is classified Uncertain significance in BLNK (ClinVar, Single submitter, 1 submitter; last evaluated 2025-10-21). AlphaMissense: likely benign (0.2789); Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with BLNK p.Pro244Arg (c.731C>G)?

BLNK p.Pro244Arg (c.731C>G) is associated with Inborn genetic diseases (ClinVar).

How common is BLNK p.Pro244Arg (c.731C>G) in the general population?

BLNK p.Pro244Arg (c.731C>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about BLNK p.Pro244Arg (c.731C>G)?

AlphaMissense predicts likely benign (score 0.2789) — an in-silico prediction, not a clinical call.

BLNK p.Pro244Arg

c.731C>G · VCV4596414

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.2789 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.2789	likely benign
REVEL	0.147	moderately benign-leaning
SaProt	LLR -10.79	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 12	GERP 2.1, phastCons 1
Regional constraint	o/e 1.00	unconstrained · MANE · 23 kb · p 0.96 · regional, not allelic
Overall
CADD	22.9	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: BLNK
Protein: p.Pro244Arg
Coding: c.731C>G
MANE Select: NM_013314
Type: single nucleotide variant
Location: chr10:96209853 (GRCh38)
Gene constraint: LOEUF 0.517 · pLI 0.90 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 64.46 · 1 PDB
Residue 244: the 'disordered' region

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

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BLNK p.Pro244= Likely benign ★ same residue
BLNK p.Ala218Thr Uncertain significance ★★ ⚠ same condition
BLNK p.Arg282Gln Uncertain significance ★★ ⚠ same condition
BLNK p.Asn91Lys Uncertain significance ★★ ⚠ same condition
BLNK p.Gln17Lys Uncertain significance ★★ ⚠ same condition
BLNK p.Pro199Arg Uncertain significance ★★ ⚠ same condition
BLNK p.Pro345Ser Uncertain significance ★★ ⚠ same condition
BLNK p.Ser125Ile 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/blnk-p-pro244arg (accessed [today's date]).

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