GRAPL
Chr 17GRB2 related adaptor protein like
Also known as: GRAPLDR
The protein is predicted to function as a signaling adaptor that binds receptor tyrosine kinases and participates in cell migration and enzyme-linked receptor signaling pathways. Mutations in GRAPL have been associated with neurodevelopmental disorders, though the specific phenotypic spectrum is still being characterized. The gene shows relatively low constraint to loss-of-function variation (pLI 0.31, LOEUF 1.87), and inheritance patterns for associated disorders require further clinical delineation.
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 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
GRAPL · 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