S32R (p.Ser32Arg) variant of ACAN (Aggrecan core protein)
S32R (p.Ser32Arg) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S32R (p.Ser32Arg) variant details
- p.Ser32Arg
- gnomAD 15-88838686-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 24.50
- PolyPhen-2 0.77
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available