H25H (p.His25His) variant of ACAN (Aggrecan core protein)
H25H (p.His25His) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and published literature.
H25H (p.His25His) variant details
- p.His25His
- gnomAD 15-88838667-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.168
- CADD 8.76
- Most common in the East Asian population (allele frequency 2.5e-05)
- Literature evidence available