P56S (p.Pro56Ser) variant of ACAN (Aggrecan core protein)
P56S (p.Pro56Ser) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P56S (p.Pro56Ser) variant details
- p.Pro56Ser
- gnomAD 15-88838758-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 20.90
- PolyPhen-2 0.14
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available