KATNAL2
Chr 18katanin catalytic subunit A1 like 2
Clinical highlights
Gene-disease validity (ClinGen)
complex neurodevelopmental disorder · ADDisputedevidence questions this relationship
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.82LOEUF
pLI 0.000
Z-score 2.29
OE 0.52 (0.34–0.82)
Typical tolerance to LoF variation
Missense Constraint?
0.42Z-score
OE missense 0.93 (0.83–1.03)
244 obs / 263.2 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.52 (0.34–0.82)
0≤0.351.4
Missense OE?0.93 (0.83–1.03)
0≤0.61.4
Synonymous OE?1.17
0≤1.21.6
LoF obs/exp: 14 / 26.8Missense obs/exp: 244 / 263.2Syn Z: -1.31
ClinVar Variant Classifications
0 submitted variants 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