L302P (p.Leu302Pro) variant of ACAN (Aggrecan core protein)
L302P (p.Leu302Pro) 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 0.67 / 1. The record also includes population frequency data.
L302P (p.Leu302Pro) variant details
- p.Leu302Pro
- rs1430909928
- ClinGen CA393707801
- ClinVar RCV003314507
- gnomAD rs1430909928
- Likely pathogenic
- Short stature and advanced bone age, with or without early-onset osteoarthritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Short stature and advanced bone age, with or without early-onset)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:MSL population (allele frequency 0.013)