KATNAL2
Chr 18katanin catalytic subunit A1 like 2
The KATNAL2 protein severs microtubules in an ATP-dependent manner to promote reorganization of cellular microtubule arrays. Mutations cause autosomal recessive intellectual disability with seizures and spasticity, typically presenting in early childhood. This gene shows tolerance to loss-of-function variants in the general population.
Disputed — evidence questions this relationship
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
466 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 41 | 0 | 41 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 2 | 279 | 23 | 0 | 304 |
Likely Benign | 0 | 38 | 28 | 24 | 90 |
Benign | 1 | 5 | 7 | 3 | 16 |
Conflicting | — | 2 | |||
| Total | 3 | 322 | 101 | 27 | 455 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
KATNAL2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools