T66I (p.Thr66Ile) variant of ACAN (Aggrecan core protein)
T66I (p.Thr66Ile) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
T66I (p.Thr66Ile) variant details
- p.Thr66Ile
- ExAC rs748136311
- gnomAD rs748136311
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- CADD 21.60
- PolyPhen-2 0.29
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available