S37P (p.Ser37Pro) variant of ACAN (Aggrecan core protein)
S37P (p.Ser37Pro) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S37P (p.Ser37Pro) variant details
- p.Ser37Pro
- 1000Genomes rs536525136
- ExAC rs536525136
- gnomAD rs536525136
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- CADD 24.50
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available