H58R (p.His58Arg) variant of ACAN (Aggrecan core protein)
H58R (p.His58Arg) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
H58R (p.His58Arg) variant details
- p.His58Arg
- gnomAD 15-88838765-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- CADD 24.20
- PolyPhen-2 0.81
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available