Is BLTP1 p.Arg873Gln (c.2618G>A) pathogenic?

BLTP1 p.Arg873Gln (c.2618G>A) is classified Uncertain significance in BLTP1 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-01-05). AlphaMissense: likely pathogenic (0.7523); Very rare (popmax 0.00268%, afr); Associated with Inborn genetic diseases.

What condition is associated with BLTP1 p.Arg873Gln (c.2618G>A)?

BLTP1 p.Arg873Gln (c.2618G>A) is associated with Inborn genetic diseases (ClinVar).

How common is BLTP1 p.Arg873Gln (c.2618G>A) in the general population?

BLTP1 p.Arg873Gln (c.2618G>A) is very rare (popmax 0.00268%, afr) (gnomAD).

What do computational predictors say about BLTP1 p.Arg873Gln (c.2618G>A)?

AlphaMissense predicts likely pathogenic (score 0.7523) — an in-silico prediction, not a clinical call.

BLTP1 p.Arg873Gln

c.2618G>A · rs372231173 · VCV985411

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.7523 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.00268%, afr)

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.7523	likely pathogenic
REVEL	0.36	indeterminate
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 12	GERP 2.3, phastCons 1
Regional constraint	o/e 0.82	unconstrained · MANE · 45 kb · p 1e-08 · regional, not allelic
Overall
CADD	28.3	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 0.00268% African / African-American · 2/74,714 alleles

Filtering AF 0.000444% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000211%

Overall 0.000746% 12/1,609,656 alleles · very rare

Ancestry group	Frequency	1 in
Ashkenazi Jewishnot grpmax-eligible	0.00342%	29,204
African / African-Americangrpmax	0.00268%	37,357
South Asian	0.00111%	90,454
European (non-Finnish)	0.000679%	147,232

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: BLTP1
Protein: p.Arg873Gln
Coding: c.2618G>A
MANE Select: NM_001384125
dbSNP: rs372231173
Type: single nucleotide variant
Location: chr4:122224502 (GRCh38)
Residue 873: a UniProt-annotated variant site (in alkkucs)

Full BLTP1 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

BLTP1 p.Ile4968Val Uncertain significance ★ ⚠ same condition
BLTP1 p.Arg968Cys Likely pathogenic ★★ ⚠ same type
BLTP1 c.1498+4A>G Uncertain significance ★★ same type
BLTP1 p.Ala2332Thr Uncertain significance ★★ ⚠ same type
BLTP1 p.Arg1317His Uncertain significance ★★ same type
BLTP1 p.Arg1791Lys Uncertain significance ★★ ⚠ same type
BLTP1 p.Arg2095His Uncertain significance ★★ same type
BLTP1 p.Arg2279Cys 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/bltp1-p-arg873gln (accessed [today's date]).

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