F53L (p.Phe53Leu) variant of ACAN (Aggrecan core protein)
F53L (p.Phe53Leu) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
F53L (p.Phe53Leu) variant details
- p.Phe53Leu
- gnomAD 15-88838751-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 23.60
- PolyPhen-2 0.30
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available