H25N (p.His25Asn) variant of ACAN (Aggrecan core protein)
H25N (p.His25Asn) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
H25N (p.His25Asn) variant details
- p.His25Asn
- gnomAD rs1198280822
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 15.40
- PolyPhen-2 0.08
- SIFT 0.52
- Most common in the 1KG:CLM population (allele frequency 0.0053)