V9V (p.Val9Val) variant of ACAN (Aggrecan core protein)
V9V (p.Val9Val) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V9V (p.Val9Val) variant details
- p.Val9Val
- rs760468016
- gnomAD 15-88836233-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 8.23
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available