D68D (p.Asp68Asp) variant of SETBP1 (SET-binding protein)
D68D (p.Asp68Asp) in SETBP1 (SET-binding protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
D68D (p.Asp68Asp) variant details
- p.Asp68Asp
- rs747370385
- gnomAD 18-44701550-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 10.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available