F8S (p.Phe8Ser) variant of ACAN (Aggrecan core protein)
F8S (p.Phe8Ser) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
F8S (p.Phe8Ser) variant details
- p.Phe8Ser
- gnomAD 15-88836229-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- CADD 24.00
- PolyPhen-2 0.31
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available