W6C (p.Trp6Cys) variant of ACAN (Aggrecan core protein)
W6C (p.Trp6Cys) in ACAN (Aggrecan core protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
W6C (p.Trp6Cys) variant details
- p.Trp6Cys
- gnomAD 15-88836222-TGG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 23.60
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available