F8F (p.Phe8Phe) variant of ACAN (Aggrecan core protein)
F8F (p.Phe8Phe) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
F8F (p.Phe8Phe) variant details
- p.Phe8Phe
- rs1359613917
- gnomAD 15-88836230-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 9.59
- Population evidence available
- Structural context available
- Literature evidence available