A16A (p.Ala16Ala) variant of ACAN (Aggrecan core protein)
A16A (p.Ala16Ala) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A16A (p.Ala16Ala) variant details
- p.Ala16Ala
- rs1227210877
- gnomAD 15-88836254-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 5.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available