V18V (p.Val18Val) variant of ACAN (Aggrecan core protein)
V18V (p.Val18Val) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V18V (p.Val18Val) variant details
- p.Val18Val
- rs753706123
- gnomAD 15-88836260-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.236
- CADD 4.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available