Is CAMSAP1 p.Ala367Val (c.1100C>T) pathogenic?

CAMSAP1 p.Ala367Val (c.1100C>T) is classified Uncertain significance in CAMSAP1 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-06-03). AlphaMissense: ambiguous (0.539); Ultra-rare (popmax 0.0156%, eas); Associated with Inborn genetic diseases.

What condition is associated with CAMSAP1 p.Ala367Val (c.1100C>T)?

CAMSAP1 p.Ala367Val (c.1100C>T) is associated with Inborn genetic diseases (ClinVar).

How common is CAMSAP1 p.Ala367Val (c.1100C>T) in the general population?

CAMSAP1 p.Ala367Val (c.1100C>T) is ultra-rare (popmax 0.0156%, eas) (gnomAD).

What do computational predictors say about CAMSAP1 p.Ala367Val (c.1100C>T)?

AlphaMissense predicts ambiguous (score 0.539) — an in-silico prediction, not a clinical call.

CAMSAP1 p.Ala367Val

c.1100C>T · VCV3994952

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.539 · ACMG-weighted

gnomAD v4.1

Rare

ultra-rare (popmax 0.0156%, eas)

Missense predictors

0/2 damaging

REVEL, SaProt · AlphaMissense indeterminate

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.539	ambiguous
REVEL	0.171	moderately benign-leaning
SaProt	LLR -6.19	tolerated
⇒ REVEL and SaProt both call this tolerated; AlphaMissense is indeterminate.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 8.4	GERP 0.4, phastCons 1
Regional constraint	o/e 0.74	unconstrained · MANE · 54 kb · p 7.9e-06 · regional, not allelic
Overall
CADD	22.8	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 0.0156% East Asian · 7/44,854 alleles

Filtering AF 0.00726% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00515%

Overall 0.00155% 25/1,612,534 alleles · ultra-rare exomes 24/1,460,202 · genomes 1/152,332 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	0.0156%	6,408
South Asian	0.0033%	30,336
Remaining individualsnot grpmax-eligible	0.0016%	62,414
European (non-Finnish)	0.00119%	84,194

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: CAMSAP1
Protein: p.Ala367Val
Coding: c.1100C>T
MANE Select: NM_015447
Type: single nucleotide variant
Location: chr9:135827530 (GRCh38)
Gene constraint: LOEUF 0.544 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 55.21 · 4 PDB

Full CAMSAP1 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

CAMSAP1 p.Leu29Met Uncertain significance ★★ ⚠ same condition
CAMSAP1 c.4387+6G>A Uncertain significance ★ same condition
CAMSAP1 p.Ala1105Val Uncertain significance ★ ⚠ same condition
CAMSAP1 p.Ala1243Val Uncertain significance ★ ⚠ same condition
CAMSAP1 p.Ala1323Val Uncertain significance ★ ⚠ same condition
CAMSAP1 p.Ala1405Thr Uncertain significance ★ ⚠ same condition
CAMSAP1 p.Ala1405Val Uncertain significance ★ same condition
CAMSAP1 p.Ala1452Gly 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/camsap1-p-ala367val (accessed [today's date]).

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