P59H (p.Pro59His) variant of ACAN (Aggrecan core protein)
P59H (p.Pro59His) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and published literature.
P59H (p.Pro59His) variant details
- p.Pro59His
- gnomAD 15-88838768-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 23.70
- PolyPhen-2 0.96
- SIFT 0.13
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Literature evidence available