V2417M (p.Val2417Met) variant of ACAN (Aggrecan core protein)
V2417M (p.Val2417Met) 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 or without early-onset osteoarthritis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature.
V2417M (p.Val2417Met) variant details
- p.Val2417Met
- rs267606625
- ClinGen CA123858
- ClinVar RCV001814958
- Ensembl rs267606625
- Pathogenic
- Short stature and advanced bone age, with or without early-onset osteoarthritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- AlphaMissense 0.43
- MetaLR 0.21
- MetaSVM -0.64
- SIFT 0.00
- MutPred 0.69
- ClinVar: Pathogenic (Short stature and advanced bone age, with or without early-onset)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: FAMILIAL OCCURRENCE OF OSTEOCHONDRITIS DISSECANS. (PMID 14216462)
- Cited in: A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant… (PMID 20137779)