S28W (p.Ser28Trp) variant of ACAN (Aggrecan core protein)
S28W (p.Ser28Trp) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
S28W (p.Ser28Trp) variant details
- p.Ser28Trp
- 1000Genomes rs148320028
- ExAC rs148320028
- TOPMed rs148320028
- gnomAD rs148320028
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 24.20
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)