H25R (p.His25Arg) variant of ACAN (Aggrecan core protein)
H25R (p.His25Arg) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and published literature.
H25R (p.His25Arg) variant details
- p.His25Arg
- gnomAD 15-88838666-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.67
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Literature evidence available