Is MAP1B p.Arg64Gln (c.191G>A) pathogenic?

MAP1B p.Arg64Gln (c.191G>A) is classified Uncertain significance in MAP1B (ClinVar, Single submitter, 1 submitter; last evaluated 2023-05-04). AlphaMissense: ambiguous (0.3802); Very rare (popmax 0.00167%, amr); Associated with MAP1B-related disorder.

What condition is associated with MAP1B p.Arg64Gln (c.191G>A)?

MAP1B p.Arg64Gln (c.191G>A) is associated with MAP1B-related disorder (ClinVar).

How common is MAP1B p.Arg64Gln (c.191G>A) in the general population?

MAP1B p.Arg64Gln (c.191G>A) is very rare (popmax 0.00167%, amr) (gnomAD).

What do computational predictors say about MAP1B p.Arg64Gln (c.191G>A)?

AlphaMissense predicts ambiguous (score 0.3802) — an in-silico prediction, not a clinical call.

MAP1B p.Arg64Gln

c.191G>A · rs1206154060 · VCV2632852

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.3802 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.00167%, amr)

Conditions

MAP1B-related disorder

Computational evidence

Protein change
AlphaMissense	0.3802	ambiguous
REVEL	0.391	indeterminate
SaProt	LLR -8.81	tolerated
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 12	GERP 5.8, phastCons 1
Regional constraint	o/e 0.70	unconstrained · MANE · 87 kb · p 3.4e-10 · regional, not allelic
Overall
CADD	32.0	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 0.00167% Admixed American · 1/59,962 alleles

Filtering AF 0.000504% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000368%

Overall 0.00081% 13/1,604,750 alleles · very rare exomes 10/1,452,628 · genomes 3/152,122 · joint denominator

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.00167%	59,962
African / African-American	0.00134%	74,698
European (non-Finnish)	0.000939%	106,521

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: MAP1B
Protein: p.Arg64Gln
Coding: c.191G>A
MANE Select: NM_005909
dbSNP: rs1206154060
Type: single nucleotide variant
Location: chr5:72115704 (GRCh38)
Gene constraint: LOEUF 0.105 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 46.18

Full MAP1B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

MAP1B-related disorder

Similar variants

MAP1B p.Pro1182Arg Uncertain significance ★★ ⚠ same condition
MAP1B p.Thr2194Met Uncertain significance ★★ ⚠ same condition
MAP1B p.Gln325Ter Likely pathogenic ★ same condition
MAP1B p.Lys751Ter Likely pathogenic ★ same condition
MAP1B p.Asp1637Asn Uncertain significance ★ ⚠ same condition
MAP1B p.Glu678Gly Uncertain significance ★ ⚠ same condition
MAP1B p.Glu927Asp Uncertain significance ★ ⚠ same condition
MAP1B p.Pro1182Leu 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/map1b-p-arg64gln (accessed [today's date]).

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