S32T (p.Ser32Thr) variant of ACAN (Aggrecan core protein)
S32T (p.Ser32Thr) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S32T (p.Ser32Thr) variant details
- p.Ser32Thr
- gnomAD 15-88838687-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- CADD 25.30
- PolyPhen-2 0.79
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available