T10S (p.Thr10Ser) variant of ACAN (Aggrecan core protein)
T10S (p.Thr10Ser) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
T10S (p.Thr10Ser) variant details
- p.Thr10Ser
- TOPMed rs1422976124
- gnomAD rs1422976124
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.16
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available