H58P (p.His58Pro) variant of ACAN (Aggrecan core protein)
H58P (p.His58Pro) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
H58P (p.His58Pro) variant details
- p.His58Pro
- gnomAD rs1463725285
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- CADD 24.80
- PolyPhen-2 0.86
- SIFT 0.02
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available