L29V (p.Leu29Val) variant of ACAN (Aggrecan core protein)
L29V (p.Leu29Val) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L29V (p.Leu29Val) variant details
- p.Leu29Val
- gnomAD 15-88838677-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available