W75R (p.Trp75Arg) variant of ACAN (Aggrecan core protein)
W75R (p.Trp75Arg) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Short stature and advanced bone age, with early-onset osteoarthritis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
W75R (p.Trp75Arg) variant details
- p.Trp75Arg
- rs1555453695
- ClinGen CA393714975
- ClinVar RCV001814991
- Ensembl rs1555453695
- Pathogenic
- Short stature and advanced bone age, with early-onset osteoarthritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.04
- PolyPhen-2 0.77
- SIFT 0.00
- EVE 0.13
- ClinVar: Pathogenic (Short stature and advanced bone age, with early-onset osteoarthr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. (PMID 27870580)