S76R (p.Ser76Arg) variant of ACAN (Aggrecan core protein)
S76R (p.Ser76Arg) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S76R (p.Ser76Arg) variant details
- p.Ser76Arg
- gnomAD 15-88838820-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available