CRTAP
Chr 3ARcartilage associated protein
Also known as: CASP, LEPREL3, OI7, P3H5
CRTAP encodes a protein necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues, serving as a scaffolding protein in collagen processing. Mutations cause osteogenesis imperfecta type VII, a connective tissue disorder characterized by bone fragility and low bone mass. This condition follows autosomal recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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
450 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 | 35 | 2 | 19 | 0 | 56 |
Likely Pathogenic | 18 | 1 | 3 | 0 | 22 |
VUS | 2 | 131 | 19 | 1 | 153 |
Likely Benign | 0 | 0 | 66 | 131 | 197 |
Benign | 0 | 1 | 3 | 5 | 9 |
Conflicting | — | 10 | |||
| Total | 55 | 135 | 110 | 137 | 447 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CRTAP · 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
External Resources
Links to major genomics databases and tools