S28L (p.Ser28Leu) variant of ACAN (Aggrecan core protein)
S28L (p.Ser28Leu) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
S28L (p.Ser28Leu) variant details
- p.Ser28Leu
- 1000Genomes rs148320028
- ExAC rs148320028
- TOPMed rs148320028
- gnomAD rs148320028
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)