L2355P (p.Leu2355Pro) variant of ACAN (Aggrecan core protein)
L2355P (p.Leu2355Pro) 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 0.73 / 1. The record also includes published literature.
L2355P (p.Leu2355Pro) variant details
- p.Leu2355Pro
- rs1555457513
- ClinGen CA393729734
- ClinVar RCV001814988
- Ensembl rs1555457513
- Pathogenic
- Short stature and advanced bone age, with or without early-onset osteoarthritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- AlphaMissense 0.89
- MetaLR 0.61
- MetaSVM 0.61
- SIFT 0.00
- MutPred 0.90
- ClinVar: Pathogenic (Short stature and advanced bone age, with or without early-onset)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. (PMID 24762113)