H58Q (p.His58Gln) variant of ACAN (Aggrecan core protein)
H58Q (p.His58Gln) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
H58Q (p.His58Gln) variant details
- p.His58Gln
- gnomAD 15-88838766-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 23.00
- PolyPhen-2 0.75
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available