I33I (p.Ile33Ile) variant of ACAN (Aggrecan core protein)
I33I (p.Ile33Ile) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
I33I (p.Ile33Ile) variant details
- p.Ile33Ile
- gnomAD 15-88838691-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.323
- CADD 10.20
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available