D2381N (p.Asp2381Asn) variant of ACAN (Aggrecan core protein)
D2381N (p.Asp2381Asn) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.34 / 1. The record also includes published literature.
D2381N (p.Asp2381Asn) variant details
- p.Asp2381Asn
- rs121913568
- ClinGen CA123855
- ClinVar RCV000015375
- ClinVar RCV002247342
- Likely pathogenic
- Short stature and advanced bone age, with or without early-onset osteoarthritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- AlphaMissense 0.29
- MetaLR 0.18
- MetaSVM -0.76
- SIFT 0.00
- MutPred 0.87
- ClinVar: Likely pathogenic (Short stature and advanced bone age, with or without early-onset)
- EBI: Pathogenic (in SEMDAG)
- UniProt: Pathogenic (in SEMDAG)
- Cited in: A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain… (PMID 19110214)