I49I (p.Ile49Ile) variant of ACAN (Aggrecan core protein)
I49I (p.Ile49Ile) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
I49I (p.Ile49Ile) variant details
- p.Ile49Ile
- gnomAD 15-88838739-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 11.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available