V31V (p.Val31Val) variant of ACAN (Aggrecan core protein)
V31V (p.Val31Val) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V31V (p.Val31Val) variant details
- p.Val31Val
- gnomAD 15-88838685-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 7.92
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available