I54I (p.Ile54Ile) variant of ACAN (Aggrecan core protein)
I54I (p.Ile54Ile) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
I54I (p.Ile54Ile) variant details
- p.Ile54Ile
- rs377037099
- gnomAD 15-88838754-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 10.20
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available