D55D (p.Asp55Asp) variant of ACAN (Aggrecan core protein)
D55D (p.Asp55Asp) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D55D (p.Asp55Asp) variant details
- p.Asp55Asp
- rs1043116010
- gnomAD 15-88838757-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 9.57
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available