CENPVL1
Chr Xcentromere protein V like 1
Also known as: CENPVP1, PRR6L1
The protein is predicted to function as a carbon-sulfur lyase with metal ion binding activity. Currently, no human diseases have been definitively associated with mutations in this gene. The inheritance pattern for potential CENPVL1-related disorders has not been established.
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is gain-of-function.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CENPVL1 · 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