H58N (p.His58Asn) variant of ACAN (Aggrecan core protein)
H58N (p.His58Asn) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
H58N (p.His58Asn) variant details
- p.His58Asn
- TOPMed rs1896571026
- gnomAD rs1896571026
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 24.40
- PolyPhen-2 0.79
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available