CWF19L1
Chr 10ARCWF19 like cell cycle control factor 1
Also known as: C19L1, SCAR17, hDrn1
The protein is a member of the CWF19 family involved in pre-mRNA splicing. Mutations cause autosomal recessive spinocerebellar ataxia type 17, characterized by cerebellar ataxia and mild cognitive disability. This gene shows extreme intolerance to loss-of-function variants (pLI ~1.0), indicating it is highly constrained and essential for normal function.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CWF19L1 · 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 →External Resources
Links to major genomics databases and tools