S65F (p.Ser65Phe) variant of ACAN (Aggrecan core protein)
S65F (p.Ser65Phe) in ACAN (Aggrecan core protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S65F (p.Ser65Phe) variant details
- p.Ser65Phe
- gnomAD 15-88838779-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 25.90
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available