T22I (p.Thr22Ile) variant of ACAN (Aggrecan core protein)
T22I (p.Thr22Ile) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and published literature.
T22I (p.Thr22Ile) variant details
- p.Thr22Ile
- gnomAD 15-88836271-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- CADD 13.40
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Literature evidence available