S30T (p.Ser30Thr) variant of ACAN (Aggrecan core protein)
S30T (p.Ser30Thr) 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.
S30T (p.Ser30Thr) variant details
- p.Ser30Thr
- gnomAD 15-88838681-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 25.50
- PolyPhen-2 0.79
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available