P56L (p.Pro56Leu) variant of ACAN (Aggrecan core protein)
P56L (p.Pro56Leu) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
P56L (p.Pro56Leu) variant details
- p.Pro56Leu
- gnomAD 15-88838759-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 23.40
- PolyPhen-2 0.22
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available