T10I (p.Thr10Ile) variant of ACAN (Aggrecan core protein)
T10I (p.Thr10Ile) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
T10I (p.Thr10Ile) variant details
- p.Thr10Ile
- gnomAD 15-88836235-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- CADD 22.80
- PolyPhen-2 0.36
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available