T19S (p.Thr19Ser) variant of ACAN (Aggrecan core protein)
T19S (p.Thr19Ser) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
T19S (p.Thr19Ser) variant details
- p.Thr19Ser
- gnomAD 15-88836262-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 8.06
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available