Is CAMSAP1 p.Asp581Val (c.1742A>T) pathogenic?

CAMSAP1 p.Asp581Val (c.1742A>T) is classified Uncertain significance in CAMSAP1 (ClinVar, Single submitter, 1 submitter; last evaluated 2026-01-01). AlphaMissense: likely benign (0.1039); Absent from gnomAD v4.1.

How common is CAMSAP1 p.Asp581Val (c.1742A>T) in the general population?

CAMSAP1 p.Asp581Val (c.1742A>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about CAMSAP1 p.Asp581Val (c.1742A>T)?

AlphaMissense predicts likely benign (score 0.1039) — an in-silico prediction, not a clinical call.

CAMSAP1 p.Asp581Val

c.1742A>T · VCV4822830

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.1039 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.1039	likely benign
REVEL	0.033	moderately benign-leaning
SaProt	LLR -5.88	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.76	GERP -1.5, phastCons 0.22
Regional constraint	o/e 0.98	unconstrained · MANE · 12 kb · p 0.41 · regional, not allelic
Overall
CADD	16.31	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

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: CAMSAP1
Protein: p.Asp581Val
Coding: c.1742A>T
MANE Select: NM_015447
Type: single nucleotide variant
Location: chr9:135822919 (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

Similar variants

CAMSAP1 p.Ser1398Ter Pathogenic/Likely pathogenic ★★ same type
CAMSAP1 p.Leu29Met Uncertain significance ★★ ⚠ same type
CAMSAP1 p.Ala914= Benign/Likely benign ★★ same type
CAMSAP1 p.Arg116Gln Likely benign ★★ same type
CAMSAP1 p.Asp556= Benign ★★ same type
CAMSAP1 p.Gly1399= Benign/Likely benign ★★ same type
CAMSAP1 p.Gly568= Likely benign ★★ same type
CAMSAP1 p.Ser811= Benign ★★ 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/camsap1-p-asp581val (accessed [today's date]).

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