KIAA1958
Chr 9KIAA1958
The KIAA1958 protein function remains poorly characterized, but mutations cause autosomal recessive spastic paraplegia with intellectual disability and seizures. This gene shows moderate constraint against loss-of-function variants, and affected individuals typically present in early childhood with progressive spasticity primarily affecting the lower extremities along with developmental delays.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
90 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 | 27 | 0 | 27 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 44 | 5 | 0 | 49 |
Likely Benign | 0 | 2 | 1 | 2 | 5 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 46 | 38 | 2 | 86 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
KIAA1958 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools