I73I (p.Ile73Ile) variant of ACAN (Aggrecan core protein)
I73I (p.Ile73Ile) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
I73I (p.Ile73Ile) variant details
- p.Ile73Ile
- rs762816809
- gnomAD 15-88838811-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 10.50
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available