L39V (p.Leu39Val) variant of ACAN (Aggrecan core protein)
L39V (p.Leu39Val) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L39V (p.Leu39Val) variant details
- p.Leu39Val
- gnomAD 15-88838707-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- CADD 7.36
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available