PF4V1
Chr 4platelet factor 4 variant 1
Also known as: CXCL4L1, CXCL4V1, PF4-ALT, PF4A, SCYB4V1
The protein is a chemokine that inhibits angiogenesis and endothelial cell chemotaxis. Mutations cause autosomal recessive primary familial brain calcification, a neurodegenerative disorder characterized by bilateral calcification of the basal ganglia and other brain regions. The gene shows low constraint against loss-of-function variants, which is consistent with the recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PF4V1 · 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