S37F (p.Ser37Phe) variant of ACAN (Aggrecan core protein)
S37F (p.Ser37Phe) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
S37F (p.Ser37Phe) variant details
- p.Ser37Phe
- Ensembl rs919876046
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 23.90
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available