A17S (p.Ala17Ser) variant of ACAN (Aggrecan core protein)
A17S (p.Ala17Ser) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- ExAC rs766063753
- TOPMed rs766063753
- gnomAD rs766063753
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- CADD 15.80
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available